Allele Registry

Canonical Allele Identifier: PA2827193939

Gene: GALNS HGNC NCBI

ClinVar RCV:

RCV000000748

RCV001193737

RCV001578322

ClinVar Variation:

713

1048220

HGVS (amino-acid)	Matching Registered Transcripts
NP_001310472.1:p.Thr127Ser	CA339831 NM_001323543.2:c.380C>G CA397101310 NM_001323543.2:c.379A>T