ClinGen Allele Registry
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Canonical Allele Identifier:
CA185750877
Gene:
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.21
MyVariant.info:
GRCh38
chr8:g.127519444A>T
GRCh37
chr8:g.128531689A>T
Linked Data - Sequence & Population
gnomAD v2:
8:128531689 A / T
gnomAD v3:
8:127519444 A / T
gnomAD v4:
chr8-127519444-A-T
Joint Max Group AF
0.93166478 (AFR)
Genomes Max Group AF
0.93166478 (AFR)
Linked Data - NCBI & NCI
dbSNP:
11986220
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.127519444A>T , CM000670.2:g.127519444A>T
GRCh38
NC_000008.10:g.128531689A>T , CM000670.1:g.128531689A>T
GRCh37
NC_000008.9:g.128600871A>T
NCBI36
Search 100 bp 5'
Search 100 bp 3'