Canonical Allele Identifier: PA916026871
Gene: GALNS HGNC NCBI

Linked Data

ClinVar Variation Id: 93185
ClinVar Variation Id: 1406013
ClinVar RCV Id: RCV001906790

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310472.1:p.His51Arg
CA221061
NM_001323543.2:c.152A>G
CA2573152753
NM_001323543.2:c.152_153delinsGT