ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827127717
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
820769
ClinVar RCV Id:
RCV001014542
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308939.1:p.Phe522Ser
CA366737937
NM_001322010.2:c.1565T>C