ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916026050
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127767
ClinVar RCV Id:
RCV000115667
RCV000214212
RCV000559426
RCV001420821
RCV003997287
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Arg628Gln
CA010408
NM_001322014.1:c.1883G>A