ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826538495
Gene: AP3B1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1001789
ClinVar RCV Id:
RCV001298133
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001258698.1:p.Tyr519His
CA360188142
NM_001271769.2:c.1555T>C