ClinGen Allele Registry
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Canonical Allele Identifier:
CA12739400
Gene: PRNCR1
HGNC
NCBI
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr8:g.127092098C>A
GRCh37
chr8:g.128104343C>A
Linked Data - Sequence & Population
gnomAD v2:
8:128104343 C / A
gnomAD v3:
8:127092098 C / A
gnomAD v4:
chr8-127092098-C-A
Joint Max Group AF
0.67528513 (NFE)
Genomes Max Group AF
0.67602028 (NFE)
Exomes Max Group AF
0.62109093 (NFE)
Linked Data - NCBI & NCI
dbSNP:
13254738
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.127092098C>A , CM000670.2:g.127092098C>A
GRCh38
NC_000008.10:g.128104343C>A , CM000670.1:g.128104343C>A
GRCh37
NC_000008.9:g.128173525C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_109833.1:n.12225C>A
Search 100 bp 5'
Search 100 bp 3'