ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827127592
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142569
ClinVar RCV Id:
RCV000131767
RCV000196874
RCV000217701
RCV003462022
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308939.1:p.Ile491Thr
CA010730
NM_001322010.2:c.1472T>C