Canonical Allele Identifier: PA658803997
Gene: GALNS HGNC NCBI

Linked Data

ClinVar Variation Id: 528322
ClinVar RCV Id: RCV000633460
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000503.1:p.Asp388Glu
CA8234784
NM_000512.5:c.1164C>A
CA397097687
NM_000512.5:c.1164C>G