ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827247758
Gene: ALG13
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001311221.1:p.Lys94Glu
CA334441456
NM_001324292.2:c.280A>G