Canonical Allele Identifier: PA2580107282
Gene: GALC HGNC NCBI

Linked Data

ClinVar Variation Id: 2163543
ClinVar RCV Id: RCV003092374

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000144.2:p.Val681Ala
CA7296827
NM_000153.4:c.2042T>C