ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826538720
Gene: AP3B1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
224760
ClinVar RCV Id:
RCV000210287
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001258698.1:p.Ser852Cys
CA354052
NM_001271769.2:c.2555C>G