ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827445107
Gene: AP3B2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001335370.1:p.Met40Val
CA393306703
NM_001348441.2:c.118A>G