Canonical Allele Identifier: PA1139668450
Gene: GALNS HGNC NCBI

Linked Data

ClinVar Variation Id: 843497
ClinVar RCV Id: RCV001046137
ClinVar Variation Id: 916230
ClinVar RCV Id: RCV001171789

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000503.1:p.Met22Ile
CA397101398
NM_000512.5:c.66G>T
CA397101399
NM_000512.5:c.66G>A
CA397101400
NM_000512.5:c.66G>C