ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827101730
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1047158
ClinVar RCV Id:
RCV001351834
RCV004036665
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308932.1:p.Ile552Met
CA366738081
NM_001322003.2:c.1656A>G