Canonical Allele Identifier: CA1751305283
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148560898C= , CM000669.2:g.148560898C= GRCh38
NC_000007.13:g.148257990C= , CM000669.1:g.148257990C= GRCh37
NC_000007.12:g.147888923C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928099.1:n.300+7202G=
XR_928100.1:n.433+7202G=