ClinGen Allele Registry
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Canonical Allele Identifier:
CA860367895
Gene:
Linked Data
dbSNP Id:
rs1330734722
MyVariant Identifiers:
chr9:g.132339126T>C (hg19)
chr9:g.129576847T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.129576847T>C , CM000671.2:g.129576847T>C
GRCh38
NC_000009.11:g.132339126T>C , CM000671.1:g.132339126T>C
GRCh37
NC_000009.10:g.131378947T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_930390.1:n.182+1249T>C
Search 100 bp 5'
Search 100 bp 3'