Canonical Allele Identifier: CA1689218219
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.13400648G= , CM000669.2:g.13400648G= GRCh38
NC_000007.13:g.13440273G= , CM000669.1:g.13440273G= GRCh37
NC_000007.12:g.13406798G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745097.1:n.147+90325G=