ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827115446
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1770056
ClinVar RCV Id:
RCV002385839
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308935.1:p.Arg391Lys
CA366742326
NM_001322006.2:c.1172G>A