Canonical Allele Identifier: CA1817442019
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.125478751C= , CM000670.2:g.125478751C= GRCh38
NC_000008.10:g.126490993C= , CM000670.1:g.126490993C= GRCh37
NC_000008.9:g.126560175C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928628.1:n.256+5437C=