ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA354054
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_003655.3:p.Ser901Cys
CA354052
NM_003664.5:c.2702C>G