ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139734987
Gene: AP4E1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_031373.2:p.Phe344Cys
CA7558948
NM_007347.5:c.1031T>G