Allele Registry

Canonical Allele Identifier: PA2826254284

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV000206966

RCV001093132

RCV001824669

RCV004020301

ClinVar Variation:

208291

HGVS (amino-acid)	Matching Registered Transcripts
NP_001188330.1:p.Val658Met	CA350966 NM_001201401.2:c.1972G>A