Allele Registry

Canonical Allele Identifier: PA658801350

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV000625867

ClinVar Variation:

522714

HGVS (amino-acid)	Matching Registered Transcripts
NP_000144.2:p.Ile193Thr	CA390751369 NM_000153.4:c.578T>C