Allele Registry

Canonical Allele Identifier: PA098703

Gene: GALNS HGNC NCBI

ClinVar Allele:

512233

ClinVar RCV:

RCV000622775

RCV001193736

RCV001578493

RCV003420080

ClinVar Variation:

521930

HGVS (amino-acid)	Matching Registered Transcripts
NP_000503.1:p.Ser80Leu	CA397091149 NM_000512.5:c.239C>T