ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580347348
Gene: AP4B1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006585.2:p.Arg608Lys
CA341708045
NM_006594.5:c.1823G>A