ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827123932
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
234077
ClinVar RCV Id:
RCV000218301
RCV000687861
RCV000987832
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308938.1:p.Arg316Lys
CA10578679
NM_001322009.2:c.947G>A