ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827139516
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000566001
ClinVar Variation:
484328
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308944.1:p.Gly754Arg
CA048891
NM_001322015.1:c.2260G>C