ClinGen Allele Registry
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Canonical Allele Identifier:
CA185699122
Gene: PRNCR1
HGNC
NCBI
Linked Data - Expert Curation
COSMIC:
COSN17132767 (not active)
COSN17133595 (not active)
COSN17134421 (not active)
COSN17135381 (not active)
COSN17137151 (not active)
COSN17139055 (not active)
COSN17139935 (not active)
COSN17141730 (not active)
COSN17144807 (not active)
COSN17145702 (not active)
COSN17147483 (not active)
COSN17148383 (not active)
COSN17149288 (not active)
COSN17150185 (not active)
COSN17152166 (not active)
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr8:g.127082911A>G
GRCh37
chr8:g.128095156A>G
Linked Data - Sequence & Population
gnomAD v2:
8:128095156 A / G
gnomAD v3:
8:127082911 A / G
gnomAD v4:
chr8-127082911-A-G
Joint Max Group AF
0.45708526 (SAS)
Genomes Max Group AF
0.45708526 (SAS)
Linked Data - NCBI & NCI
dbSNP:
13252298
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.127082911A>G , CM000670.2:g.127082911A>G
GRCh38
NC_000008.10:g.128095156A>G , CM000670.1:g.128095156A>G
GRCh37
NC_000008.9:g.128164338A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_109833.1:n.3038A>G
Search 100 bp 5'
Search 100 bp 3'