ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827101114
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
484288
ClinVar RCV Id:
RCV000573666
RCV000629879
RCV001797751
RCV004001077
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308932.1:p.Lys479Arg
CA045684
NM_001322003.2:c.1436A>G