Canonical Allele Identifier: PA221062
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_000503.1:p.His236Arg
CA221061
NM_000512.5:c.707A>G
CA2573152753
NM_000512.5:c.707_708delinsGT