Canonical Allele Identifier: CA1689218197
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.13400636C= , CM000669.2:g.13400636C= GRCh38
NC_000007.13:g.13440261C= , CM000669.1:g.13440261C= GRCh37
NC_000007.12:g.13406786C= NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001745097.1:n.147+90313C=