Canonical Allele Identifier: PA2827646359
Gene: ALG9 HGNC NCBI
ClinVar RCV:
RCV003077238
ClinVar Variation:
2147528
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339344.1:p.Arg291Lys
CA382592410
NM_001352415.1:c.872G>A