ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA1139698566
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
956924
ClinVar RCV Id:
RCV001229815
RCV002249818
RCV002379879
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Asn45Ser
CA366744998
NM_001322014.1:c.134A>G