ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580347319
Gene: AP4B1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2005419
ClinVar RCV Id:
RCV002828527
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006585.2:p.Pro77Ser
CA341691392
NM_006594.5:c.229C>T