ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827119216
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1321000
ClinVar RCV Id:
RCV001776979
RCV002541084
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308936.1:p.Glu557Lys
CA366738940
NM_001322007.2:c.1669G>A