Canonical Allele Identifier: CA2470723787
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.15458719C= , CM000686.2:g.15458719C= GRCh38
NC_000024.9:g.17570599C= , CM000686.1:g.17570599C= GRCh37
NC_000024.8:g.16079993C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938614.1:n.81-1575C=