ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499243242
Gene: AP3D1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001248755.1:p.Ile1134Leu
CA9058403
NM_001261826.3:c.3400A>C