Canonical Allele Identifier: PA2580196086
Gene: AP4B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2073686
ClinVar RCV Id: RCV002972076

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001295241.1:p.Trp45Cys
CA341714048
NM_001308312.2:c.135G>T
CA341714051
NM_001308312.2:c.135G>C