ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827138839
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1784962
ClinVar RCV Id:
RCV002419991
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308944.1:p.Phe579Cys
CA366738114
NM_001322015.1:c.1736T>G