ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
Get Identifier
Gene: PMS1
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001276337.1:p.Gln57Ter
NM_001289408.2:c.169C>T