Canonical Allele Identifier: CA1751305402
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148561011C= , CM000669.2:g.148561011C= GRCh38
NC_000007.13:g.148258103C= , CM000669.1:g.148258103C= GRCh37
NC_000007.12:g.147889036C= NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_928099.1:n.300+7089G=
XR_928100.1:n.433+7089G=