ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827133656
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000115664
RCV000195776
RCV000212863
RCV001798334
RCV003330439
ClinVar Variation:
127766
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308942.1:p.Asn384Asp
CA010172
NM_001322013.1:c.1150A>G