Allele Registry

Canonical Allele Identifier: PA145818

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV000078203

RCV000355494

RCV001647048

ClinVar Variation:

92506

HGVS (amino-acid)	Matching Registered Transcripts
NP_000144.2:p.Arg184Cys	CA145817 NM_000153.4:c.550C>T