Allele Registry

Canonical Allele Identifier: PA2499249213

Gene: GALNS HGNC NCBI

ClinVar RCV:

RCV001372022

RCV002550143

ClinVar Variation:

1062322

HGVS (amino-acid)	Matching Registered Transcripts
NP_001310473.1:p.Ala465Thr	CA8234680 NM_001323544.2:c.1393G>A