ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916026165
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
455688
ClinVar RCV Id:
RCV000554860
RCV000570475
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Leu723Phe
CA366737849
NM_001322014.1:c.2167C>T