ClinGen Allele Registry
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Canonical Allele Identifier:
CA16352880
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr9:g.1712562T>C
GRCh37
chr9:g.1712562T>C
Linked Data - Sequence & Population
gnomAD v2:
9:1712562 T / C
gnomAD v3:
9:1712562 T / C
gnomAD v4:
chr9-1712562-T-C
Joint Max Group AF
0.32002949 (AFR)
Genomes Max Group AF
0.32002949 (AFR)
Linked Data - NCBI & NCI
dbSNP:
574865
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.1712562T>C , CM000671.2:g.1712562T>C
GRCh38
NC_000009.11:g.1712562T>C , CM000671.1:g.1712562T>C
GRCh37
NC_000009.10:g.1702562T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001746599.1:n.97-6305T>C
Search 100 bp 5'
Search 100 bp 3'