Canonical Allele Identifier: PA916021054
Gene: AP4B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 386852
ClinVar RCV Id: RCV000425918 RCV000463656 RCV001251671 RCV001821192 RCV001848780 RCV002313102 RCV003912733
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001295241.1:p.Val84Ala
CA1016017
NM_001308312.2:c.251T>C