ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827133293
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237886
ClinVar RCV Id:
RCV000227437
RCV000479471
RCV000570329
RCV002288911
RCV003998786
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308942.1:p.Thr294Met
CA043685
NM_001322013.1:c.881C>T