Canonical Allele Identifier: PA2573298001
Gene: ALG2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_149078.1:p.Gln338His
CA374226490
NM_033087.4:c.1014G>T
CA374226493
NM_033087.4:c.1014G>C