ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827101936
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2562211
ClinVar RCV Id:
RCV003310271
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308932.1:p.Lys571Arg
CA366737960
NM_001322003.2:c.1712A>G