ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825190348
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
659762
ClinVar RCV Id:
RCV000816815
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000526.2:p.Val230Glu
CA366743842
NM_000535.7:c.689T>A