Canonical Allele Identifier: CA2672748742
Gene: AGA-DT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442641C>T , CM000666.2:g.177442641C>T GRCh38
NC_000004.11:g.178363795C>T , CM000666.1:g.178363795C>T GRCh37
NC_000004.10:g.178600789C>T NCBI36
NG_011845.2:g.4863G>A

Transcript Alleles

HGVS Amino-acid Change
XR_001741929.1:n.82+60C>T