Canonical Allele Identifier: PA2826254722
Gene: GALC HGNC NCBI

Linked Data

ClinVar Variation Id: 1360066
ClinVar RCV Id: RCV001904694

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001188331.1:p.Pro473Leu
CA390746331
NM_001201402.2:c.1418C>T