Canonical Allele Identifier: PA1139680344
Gene: GALC HGNC NCBI

Linked Data

ClinVar Variation Id: 963553
ClinVar RCV Id: RCV001237593
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000144.2:p.Ala225Glu
CA7297279
NM_000153.4:c.674C>A