ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827104254
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
455741
ClinVar RCV Id:
RCV000556803
RCV000564413
RCV000781740
RCV001568558
RCV004003768
RCV003338645
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308933.1:p.Cys117Tyr
CA051535
NM_001322004.2:c.350G>A