ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827127440
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
188248
ClinVar RCV Id:
RCV000168211
RCV000220002
RCV003318558
RCV003995612
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308939.1:p.His447Arg
CA010440
NM_001322010.2:c.1340A>G