ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827133710
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000483031
RCV000548259
RCV000561065
RCV001821390
RCV003470536
RCV004002274
ClinVar Variation:
418854
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308942.1:p.Asp398His
CA16618498
NM_001322013.1:c.1192G>C