ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829716803
Gene: AP4E1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_031373.2:p.Leu84Ile
CA7558706
NM_007347.5:c.250C>A