Canonical Allele Identifier: PA916028191
Gene: ALG1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317433.1:p.Leu3Phe
CA394679940
NM_001330504.2:c.9G>C
CA394679941
NM_001330504.2:c.9G>T