Allele Registry

Canonical Allele Identifier: PA2826254719

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV000498864

RCV000668258

ClinVar Variation:

431995

HGVS (amino-acid)	Matching Registered Transcripts
NP_001188331.1:p.Tyr464Asn	CA264685589 NM_001201402.2:c.1390T>A