Canonical Allele Identifier: PA2829901247
Gene: ALG1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_061982.3:p.Leu114Phe
CA394679940
NM_019109.4:c.342G>C
CA394679941
NM_019109.4:c.342G>T