ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827131007
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
216451
ClinVar RCV Id:
RCV000199090
RCV000221963
RCV000486619
RCV000780620
RCV000987826
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308941.1:p.Tyr208His
CA044339
NM_001322012.1:c.622T>C