ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827116345
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
480341
ClinVar RCV Id:
RCV000570562
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308935.1:p.Glu625Ala
CA366738146
NM_001322006.2:c.1874A>C