Canonical Allele Identifier: CA2672748721
Gene: AGA-DT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442603T>C , CM000666.2:g.177442603T>C GRCh38
NC_000004.11:g.178363757T>C , CM000666.1:g.178363757T>C GRCh37
NC_000004.10:g.178600751T>C NCBI36
NG_011845.2:g.4901A>G

Transcript Alleles

HGVS Amino-acid Change
XR_001741929.1:n.82+22T>C