ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826538511
Gene: AP3B1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6372
ClinVar RCV Id:
RCV000006744
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001258698.1:p.Leu531Arg
CA340563
NM_001271769.2:c.1592T>G