Allele Registry

Canonical Allele Identifier: PA645429934

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV000345880

RCV001785518

ClinVar Variation:

225368

HGVS (amino-acid)	Matching Registered Transcripts
NP_000144.2:p.Leu634Ser	CA7296877 NM_000153.4:c.1901T>C