ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827112352
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
186045
ClinVar RCV Id:
RCV000165567
RCV000546976
RCV000662635
RCV003995431
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308934.1:p.Lys330Arg
CA009618
NM_001322005.2:c.989A>G