Allele Registry

Canonical Allele Identifier: PA2499249070

Gene: GALNS HGNC NCBI

ClinVar RCV:

RCV001578288

RCV003331129

ClinVar Variation:

1048185

HGVS (amino-acid)	Matching Registered Transcripts
NP_001310473.1:p.Ala113Thr	CA8235214 NM_001323544.2:c.337G>A