Canonical Allele Identifier: CA1751305393
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148561007A= , CM000669.2:g.148561007A= GRCh38
NC_000007.13:g.148258099A= , CM000669.1:g.148258099A= GRCh37
NC_000007.12:g.147889032A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928099.1:n.300+7093T=
XR_928100.1:n.433+7093T=