Canonical Allele Identifier: PA2826362952
Gene: AP4B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2073686
ClinVar RCV Id: RCV002972076
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001240782.1:p.Trp114Cys
CA341714048
NM_001253853.3:c.342G>T
CA341714051
NM_001253853.3:c.342G>C