Allele Registry

Canonical Allele Identifier: PA259870

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV000023594

ClinVar Variation:

30620

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