ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580294480
Gene: AP3B1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2326362
ClinVar RCV Id:
RCV002920941
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003655.3:p.Gln579Arg
CA3316976
NM_003664.5:c.1736A>G