ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA891864082
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000205693
RCV000575149
RCV000662464
RCV001193970
RCV003153480
RCV003997581
ClinVar Variation:
219785
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000526.2:p.Leu47Val
CA043361
NM_000535.7:c.139C>G