Canonical Allele Identifier: PA2827646594
Gene: ALG9 HGNC NCBI
ClinVar RCV:
RCV003077238
ClinVar Variation:
2147528
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339346.1:p.Arg462Lys
CA382592410
NM_001352417.1:c.1385G>A