ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829560451
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_004635.2:p.Asp1030Asn
CA7699689
NM_004644.5:c.3088G>A