ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916025747
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
140937
ClinVar RCV Id:
RCV000129211
RCV000232320
RCV000486562
RCV003235051
RCV003997486
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Thr430Ala
CA009484
NM_001322014.1:c.1288A>G