ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA200491540
Gene:
Linked Data
dbSNP Id:
rs985452516
gnomAD v3:
9-129576705-C-A
gnomAD v4:
9-129576705-C-A
MyVariant Identifiers:
chr9:g.132338984C>A (hg19)
chr9:g.129576705C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.129576705C>A , CM000671.2:g.129576705C>A
GRCh38
NC_000009.11:g.132338984C>A , CM000671.1:g.132338984C>A
GRCh37
NC_000009.10:g.131378805C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_930390.1:n.182+1107C>A
Search 100 bp 5'
Search 100 bp 3'