ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827139007
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
182697
ClinVar RCV:
RCV000164743
RCV000206423
RCV000410095
RCV000486892
RCV000761045
RCV000781746
RCV001358129
ClinVar Variation:
185339
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308944.1:p.Ala622Val
CA010984
NM_001322015.1:c.1865C>T