Canonical Allele Identifier: PA2827645758
Gene: ALG9 HGNC NCBI
ClinVar RCV:
RCV002839168
ClinVar Variation:
2014845
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339338.1:p.Pro273Arg
CA6274441
NM_001352409.1:c.818C>G