Allele Registry

Canonical Allele Identifier: PA2826254848

Gene: GALC HGNC NCBI

ClinVar Allele:

227363

ClinVar RCV:

RCV000345880

RCV001785518

ClinVar Variation:

225368

HGVS (amino-acid)	Matching Registered Transcripts
NP_001188331.1:p.Leu608Ser	CA7296877 NM_001201402.2:c.1823T>C