Allele Registry

Canonical Allele Identifier: PA097740

Gene: GALNS HGNC NCBI

ClinVar Allele:

512232

ClinVar RCV:

RCV000624508

RCV000763388

RCV003128664

ClinVar Variation:

520618

HGVS (amino-acid)	Matching Registered Transcripts
NP_000503.1:p.Arg90Trp	CA286406375 NM_000512.5:c.268C>T