ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916025833
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
230824
ClinVar RCV Id:
RCV000214480
RCV000233535
RCV000485778
RCV001532968
RCV003997862
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Gly480Ala
CA10578676
NM_001322014.1:c.1439G>C