Canonical Allele Identifier: CA1751305421
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148561021C= , CM000669.2:g.148561021C= GRCh38
NC_000007.13:g.148258113C= , CM000669.1:g.148258113C= GRCh37
NC_000007.12:g.147889046C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928099.1:n.300+7079G=
XR_928100.1:n.433+7079G=