ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827129458
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1780960
ClinVar RCV Id:
RCV002412647
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308940.1:p.Ile300Val
CA366739684
NM_001322011.2:c.898A>G