Canonical Allele Identifier: PA2826362733
Gene: AP4B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 589124
ClinVar RCV Id: RCV002318064
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001240781.1:p.Arg228His
CA1016030
NM_001253852.3:c.683G>A