ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA357572
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-1.5079353772
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000205485
RCV000480146
RCV000568311
RCV000708843
ClinVar Variation:
219534
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Thr806Ile
CA035718
NM_000251.3:c.2417C>T