ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111536
Gene: AP3B1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003655.3:p.Leu580Arg
CA340563
NM_003664.5:c.1739T>G