ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA248898
Gene: AP4B1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006585.2:p.Thr256Ile
CA248897
NM_006594.5:c.767C>T