Canonical Allele Identifier: PA221048
Gene: GALNS HGNC NCBI

Linked Data

ClinVar Variation Id: 93170
ClinVar RCV Id: RCV000079028 RCV001578461
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000503.1:p.Trp520Arg
CA221047
NM_000512.5:c.1558T>C
CA397092452
NM_000512.5:c.1558T>A