ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2741928849
Gene: POLE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2814034
ClinVar RCV Id:
RCV003680740
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006222.2:p.Tyr467Ser
CA387358602
NM_006231.4:c.1400A>C