Allele Registry

Canonical Allele Identifier: PA645428881

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV000324608

RCV000726405

ClinVar Variation:

289955

HGVS (amino-acid)	Matching Registered Transcripts
NP_000144.2:p.Phe514Ser	CA10606606 NM_000153.4:c.1541T>C