Canonical Allele Identifier: CA2672748720
Gene: AGA-DT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442601G>A , CM000666.2:g.177442601G>A GRCh38
NC_000004.11:g.178363755G>A , CM000666.1:g.178363755G>A GRCh37
NC_000004.10:g.178600749G>A NCBI36
NG_011845.2:g.4903C>T

Transcript Alleles

HGVS Amino-acid Change
XR_001741929.1:n.82+20G>A