ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA1139715864
Gene: POLE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
946553
ClinVar RCV Id:
RCV003656550
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006222.2:p.Phe596Ser
CA387356219
NM_006231.4:c.1787T>C