Canonical Allele Identifier: PA916021049
Gene: AP4B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 695489
ClinVar RCV Id: RCV001472284 RCV001816926 RCV001849137 RCV002352501
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001295241.1:p.Ala48Asp
CA1016036
NM_001308312.2:c.143C>A