Canonical Allele Identifier: PA2827193905
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_001310472.1:p.Ala106Thr
CA251570
NM_001323543.2:c.316G>A