Canonical Allele Identifier: CA2762206129
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.74554075G>A , CM000666.2:g.74554075G>A GRCh38
NC_000004.11:g.75419792G>A , CM000666.1:g.75419792G>A GRCh37
NC_000004.10:g.75638656G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001741513.1:n.167-1243C>T