ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916025893
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
139651
ClinVar RCV:
RCV000132386
RCV000410304
RCV000483157
RCV000515260
RCV000780619
RCV001085962
RCV001798404
ClinVar Variation:
135939
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Tyr519Cys
CA009843
NM_001322014.1:c.1556A>G