ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827116227
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411037
ClinVar RCV Id:
RCV000765955
RCV000463007
RCV000573574
RCV001821289
RCV004001875
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308935.1:p.Gln591Arg
CA045882
NM_001322006.2:c.1772A>G