Allele Registry

Canonical Allele Identifier: PA2826254776

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV000169344

RCV000723436

RCV001266084

ClinVar Variation:

188969

HGVS (amino-acid)	Matching Registered Transcripts
NP_001188331.1:p.Tyr541Ser	CA274200 NM_001201402.2:c.1622A>C