ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA168687
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-3.9030434974
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000131745
RCV000235233
RCV000781552
RCV001084144
RCV003997168
ClinVar Variation:
91038
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Thr905Ile
CA020895
NM_000251.3:c.2714C>T