ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827124796
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1781314
ClinVar RCV Id:
RCV002413001
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308938.1:p.Pro482His
CA366739590
NM_001322009.2:c.1445C>A