ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2741928835
Gene: POLE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2836186
ClinVar RCV Id:
RCV003689951
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006222.2:p.Ser459Phe
CA387358756
NM_006231.4:c.1376C>T