Canonical Allele Identifier: PA2826254124
Gene: GALC HGNC NCBI

Linked Data

ClinVar Variation Id: 2281390
ClinVar RCV Id: RCV002830704

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001188330.1:p.Val490Ile
CA264683758
NM_001201401.2:c.1468G>A