Canonical Allele Identifier: CA2471059414
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.20843284C= , CM000686.2:g.20843284C= GRCh38
NC_000024.9:g.23005170C= , CM000686.1:g.23005170C= GRCh37
NC_000024.8:g.21414558C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000406090.1:n.427G=