ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA130550
Gene: ALG13
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001034299.3:p.Lys94Glu
CA130548
NM_001039210.5:c.280A>G