ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827127222
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
216454
ClinVar RCV Id:
RCV001370060
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308939.1:p.Thr389Ser
CA337356
NM_001322010.2:c.1165A>T