ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA354054
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_003655.3:p.Ser901Cys
CA354052
NM_003664.5:c.2702C>G