ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828552273
Gene: AP3D1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361728.1:p.Ile1122Val
CA9058402
NM_001374799.1:c.3364A>G