Canonical Allele Identifier: PA1139668458
Gene: GALNS HGNC NCBI
ClinVar RCV:
RCV001116254
ClinVar Variation:
884933
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000503.1:p.Ile33Val
CA8235399
NM_000512.5:c.97A>G