Allele Registry

Canonical Allele Identifier: PA098240

Gene: GALNS HGNC NCBI

ClinVar Allele:

336662

ClinVar RCV:

RCV000331371

RCV000894656

RCV003235192

RCV003480600

ClinVar Variation:

321191

HGVS (amino-acid)	Matching Registered Transcripts
NP_000503.1:p.Ile416Thr	CA8234741 NM_000512.5:c.1247T>C