Allele Registry

Canonical Allele Identifier: PA098661

Gene: GALNS HGNC NCBI

ClinVar RCV:

RCV000623443

RCV001235768

ClinVar Variation:

520617

HGVS (amino-acid)	Matching Registered Transcripts
NP_000503.1:p.Ser295Phe	CA8234948 NM_000512.5:c.884C>T