ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580133539
Gene: AP2B1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001025177.1:p.Thr744Ala
CA8505504
NM_001030006.2:c.2230A>G