ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827117318
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
220437
ClinVar RCV Id:
RCV001370163
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308936.1:p.Ile71Thr
CA348431
NM_001322007.2:c.212T>C