Canonical Allele Identifier: PA2827194035
Gene: GALNS HGNC NCBI

Linked Data

ClinVar Variation Id: 1048227
ClinVar RCV Id: RCV001578329
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310472.1:p.Arg195Ser
CA286448796
NM_001323543.2:c.585G>C
CA397097768
NM_001323543.2:c.585G>T