Canonical Allele Identifier: PA259870
Gene: GALC HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000144.2:p.Pro318Arg
CA259869
NM_000153.4:c.953C>G