Allele Registry

Canonical Allele Identifier: PA2826253942

Gene: GALC HGNC NCBI

ClinVar Allele:

358262

ClinVar RCV:

RCV000412229

RCV001782868

ClinVar Variation:

370631

HGVS (amino-acid)	Matching Registered Transcripts
NP_001188330.1:p.Pro295Ala	CA16041700 NM_001201401.2:c.883C>G