ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827113346
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2566074
ClinVar RCV Id:
RCV003293458
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308934.1:p.Ile589Val
CA366737844
NM_001322005.2:c.1765A>G