ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA891847484
Gene: AP4B1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
589124
ClinVar RCV Id:
RCV002318064
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006585.2:p.Arg228His
CA1016030
NM_006594.5:c.683G>A