Canonical Allele Identifier: PA2827646484
Gene: ALG9 HGNC NCBI
ClinVar RCV:
RCV002932129
ClinVar Variation:
2048922
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339345.1:p.Asn383Ser
CA6274357
NM_001352416.1:c.1148A>G