Canonical Allele Identifier: CA2672748714
Gene: AGA-DT HGNC NCBI

Linked Data

gnomAD v4: 4-177442596-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442596G>A , CM000666.2:g.177442596G>A GRCh38
NC_000004.11:g.178363750G>A , CM000666.1:g.178363750G>A GRCh37
NC_000004.10:g.178600744G>A NCBI36
NG_011845.2:g.4908C>T

Transcript Alleles

HGVS Amino-acid Change
XR_001741929.1:n.82+15G>A
Search 100 bp 5'
Search 100 bp 3'