ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827123948
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
640968
ClinVar RCV Id:
RCV000794109
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308937.1:p.Ser515Cys
CA366739536
NM_001322008.2:c.1544C>G