ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA351378
Gene: AP4E1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_031373.2:p.Val517Ile
CA351377
NM_007347.5:c.1549G>A