ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826538720
Gene: AP3B1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000210287
ClinVar Variation:
224760
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001258698.1:p.Ser852Cys
CA354052
NM_001271769.2:c.2555C>G