ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829458070
Gene: AP3D1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001323198
RCV002546101
ClinVar Variation:
1023191
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003929.4:p.Ile1072Leu
CA9058403
NM_003938.6:c.3214A>C