ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827317764
Gene: ALG1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317433.1:p.Phe316Cys
CA394674829
NM_001330504.2:c.947T>G