ClinGen Allele Registry
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Canonical Allele Identifier:
CA860367891
Gene:
Linked Data
dbSNP Id:
rs1302250420
MyVariant Identifiers:
chr9:g.132339119C>A (hg19)
chr9:g.129576840C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.129576840C>A , CM000671.2:g.129576840C>A
GRCh38
NC_000009.11:g.132339119C>A , CM000671.1:g.132339119C>A
GRCh37
NC_000009.10:g.131378940C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_930390.1:n.182+1242C>A
Search 100 bp 5'
Search 100 bp 3'