Canonical Allele Identifier: PA2826362725
Gene: AP4B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2073686
ClinVar RCV Id: RCV002972076

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001240781.1:p.Trp213Cys
CA341714048
NM_001253852.3:c.639G>T
CA341714051
NM_001253852.3:c.639G>C