ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827120519
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127768
ClinVar RCV Id:
RCV000115668
RCV000195978
RCV000212864
RCV001844040
RCV003997288
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308937.1:p.Arg540Met
CA010512
NM_001322008.2:c.1619G>T