Canonical Allele Identifier: PA247069
Gene: GALNS HGNC NCBI

Linked Data

ClinVar Variation Id: 198427
ClinVar RCV Id: RCV000179765 RCV000310050
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000503.1:p.Arg222Gln
CA247068
NM_000512.5:c.665G>A