ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827127597
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127771
ClinVar RCV Id:
RCV000115671
RCV000212866
RCV000547118
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308939.1:p.Ile492Val
CA010735
NM_001322010.2:c.1474A>G