Canonical Allele Identifier: CA1689218233
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.13400667A= , CM000669.2:g.13400667A= GRCh38
NC_000007.13:g.13440292A= , CM000669.1:g.13440292A= GRCh37
NC_000007.12:g.13406817A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745097.1:n.147+90344A=