Canonical Allele Identifier: PA097594
Gene: GALNS HGNC NCBI
ClinVar Allele:
15746
ClinVar RCV:
RCV000000742
RCV003234884
ClinVar Variation:
707
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000503.1:p.Ala291Thr
CA251570
NM_000512.5:c.871G>A