Canonical Allele Identifier: PA916026893
Gene: GALNS HGNC NCBI

Linked Data

ClinVar Variation Id: 197149
ClinVar RCV Id: RCV000178107 RCV000282371
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310473.1:p.Trp147Arg
CA275246
NM_001323544.2:c.439T>A
CA397087517
NM_001323544.2:c.439T>C