Allele Registry

Canonical Allele Identifier: PA2826253923

Gene: GALC HGNC NCBI

ClinVar Allele:

265194

ClinVar RCV:

RCV000285229

RCV000522818

ClinVar Variation:

280957

HGVS (amino-acid)	Matching Registered Transcripts
NP_001188330.1:p.Ser280Phe	CA7297219 NM_001201401.2:c.839C>T