ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827137950
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
230651
ClinVar RCV Id:
RCV000214914
RCV000460028
RCV000481558
RCV000987831
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308944.1:p.Gly349Arg
CA043129
NM_001322015.1:c.1045G>C