ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829560512
Gene: AP3B2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004635.2:p.Thr1081Ile
CA7699644
NM_004644.5:c.3242C>T