Canonical Allele Identifier: PA2499229078
Gene: GALC HGNC NCBI

Linked Data

ClinVar Variation Id: 1053266
ClinVar RCV Id: RCV001361588
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000144.2:p.Ile250Met
CA390749252
NM_000153.4:c.750A>G