Canonical Allele Identifier: PA2825204918
Gene: GALNS HGNC NCBI

Linked Data

ClinVar Variation Id: 1048244
ClinVar RCV Id: RCV001578346

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000503.1:p.Asn487Lys
CA397094159
NM_000512.5:c.1461C>G
CA397094161
NM_000512.5:c.1461C>A