Canonical Allele Identifier: CA2345843996
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.1875494C= , CM000682.2:g.1875494C= GRCh38
NC_000020.10:g.1856140C= , CM000682.1:g.1856140C= GRCh37
NC_000020.9:g.1804140C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001754467.1:n.433-7401G=