Allele Registry

Canonical Allele Identifier: PA2826254243

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV000345880

RCV001785518

ClinVar Variation:

225368

HGVS (amino-acid)	Matching Registered Transcripts
NP_001188330.1:p.Leu611Ser	CA7296877 NM_001201401.2:c.1832T>C