Allele Registry

Canonical Allele Identifier: PA2741813439

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV003328087

ClinVar Variation:

2579652

HGVS (amino-acid)	Matching Registered Transcripts
NP_000144.2:p.Pro318Leu	CA390747571 NM_000153.4:c.953C>T