Canonical Allele Identifier: PA2827193939
Gene: GALNS HGNC NCBI

Linked Data

ClinVar Variation Id: 713
ClinVar RCV Id: RCV000000748 RCV001193737
ClinVar Variation Id: 1048220
ClinVar RCV Id: RCV001578322
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310472.1:p.Thr127Ser
CA339831
NM_001323543.2:c.380C>G
CA397101310
NM_001323543.2:c.379A>T