Canonical Allele Identifier: PA2829716819
Gene: AP4E1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_031373.2:p.Gln143His
CA7558775
NM_007347.5:c.429G>C
CA392415361
NM_007347.5:c.429G>T