ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827114008
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1034492
ClinVar RCV Id:
RCV001337225
RCV002438766
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308935.1:p.Ser28Phe
CA366745089
NM_001322006.2:c.83C>T