ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573193899
Gene: AP3B2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1444913
ClinVar RCV Id:
RCV001982650
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265440.1:p.Asp998Asn
CA7699689
NM_001278511.2:c.2992G>A