ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827127170
Gene: PMS2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308939.1:p.Arg376Gln
CA010042
NM_001322010.2:c.1127_1128delinsAG
CA010059
NM_001322010.2:c.1127G>A