ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826933328
Gene: AP4B1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000145016
RCV000986397
RCV001847774
RCV002312627
ClinVar Variation:
157718
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001295241.1:p.Leu312Ser
CA171108
NM_001308312.2:c.935T>C