Allele Registry

Canonical Allele Identifier: PA274847

Gene: GALNS HGNC NCBI

ClinVar Allele:

190091

ClinVar RCV:

RCV000172874

ClinVar Variation:

192298

HGVS (amino-acid)	Matching Registered Transcripts
NP_000503.1:p.Tyr181Cys	CA274846 NM_000512.5:c.542A>G