ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826538518
Gene: AP3B1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001258698.1:p.Val536Ala
CA360187802
NM_001271769.2:c.1607T>C