Allele Registry

Canonical Allele Identifier: PA220414

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV000180100

ClinVar Variation:

92511

HGVS (amino-acid)	Matching Registered Transcripts
NP_000144.2:p.Trp288Arg	CA220413 NM_000153.4:c.862T>C CA390747819 NM_000153.4:c.862T>A