Canonical Allele Identifier: PA2827646786
Gene: ALG9 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339348.1:p.Met183Leu
CA382597493
NM_001352419.1:c.547A>T
CA382597496
NM_001352419.1:c.547A>C