Canonical Allele Identifier: CA1818149877
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.126999739C= , CM000670.2:g.126999739C= GRCh38
NC_000008.10:g.128011984C= , CM000670.1:g.128011984C= GRCh37
NC_000008.9:g.128081166C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001746076.2:n.1301-6816C=