ClinGen Allele Registry
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Canonical Allele Identifier:
CA10763323
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr1:g.12163394G>A
GRCh37
chr1:g.12223451G>A
Linked Data - Sequence & Population
gnomAD v2:
1:12223451 G / A
gnomAD v3:
1:12163394 G / A
gnomAD v4:
chr1-12163394-G-A
Joint Max Group AF
0.3891104 (NFE)
Genomes Max Group AF
0.3891104 (NFE)
Linked Data - NCBI & NCI
dbSNP:
590368
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.12163394G>A , CM000663.2:g.12163394G>A
GRCh38
NC_000001.10:g.12223451G>A , CM000663.1:g.12223451G>A
GRCh37
NC_000001.9:g.12146038G>A
NCBI36
NG_029791.1:g.1392G>A
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