ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827132417
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141163
ClinVar RCV Id:
RCV000129553
RCV000696062
RCV000765967
RCV001753510
RCV003460895
RCV003997509
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308942.1:p.Thr30Ile
CA012165
NM_001322013.1:c.89C>T