ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826605080
Gene: AP3B2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265441.1:p.Thr1100Ile
CA7699644
NM_001278512.2:c.3299C>T