ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826862992
Gene: AP2S1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
450031
ClinVar RCV Id:
RCV000523584
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001288007.1:p.Leu115Pro
CA406507996
NM_001301078.2:c.344T>C