Canonical Allele Identifier: PA2827317686
Gene: ALG1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317433.1:p.His256Gln
CA394673805
NM_001330504.2:c.768C>A
CA394673806
NM_001330504.2:c.768C>G