Canonical Allele Identifier: PA2826351040
Gene: AP4E1 HGNC NCBI

Linked Data

ClinVar Variation Id: 432244
ClinVar RCV Id: RCV000498765 RCV000633021 RCV001722419 RCV001848861 RCV003902750
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001239056.1:p.Ile351Leu
CA7559023
NM_001252127.2:c.1051A>C