ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826538517
Gene: AP3B1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000150163
RCV000324616
RCV001511630
RCV001682862
ClinVar Variation:
162753
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001258698.1:p.Val536Glu
CA175259
NM_001271769.2:c.1607T>A