Canonical Allele Identifier: PA2829671065
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_006585.2:p.Trp213Cys
CA341714048
NM_006594.5:c.639G>T
CA341714051
NM_006594.5:c.639G>C