Canonical Allele Identifier: PA2825204633
Gene: GALNS HGNC NCBI

Linked Data

ClinVar Variation Id: 2156006
ClinVar RCV Id: RCV003075237

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000503.1:p.Val283Ala
CA397076128
NM_000512.5:c.848T>C