Canonical Allele Identifier: PA2827647069
Gene: ALG9 HGNC NCBI
ClinVar RCV:
RCV002839168
ClinVar Variation:
2014845
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339351.1:p.Pro248Arg
CA6274441
NM_001352422.2:c.743C>G