ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA3073461418
Gene: PMS2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000526.2:p.Ser46Thr
CA366744991
NM_000535.7:c.137G>C