ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573189018
Gene: AP4E1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001239056.1:p.His53Tyr
CA392414619
NM_001252127.2:c.157C>T