Allele Registry

Canonical Allele Identifier: PA645428584

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV000256130

RCV000984177

ClinVar Variation:

265479

HGVS (amino-acid)	Matching Registered Transcripts
NP_000144.2:p.Ile250Thr	CA10588577 NM_000153.4:c.749T>C