ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA339318
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-2.3216536642
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000200437
RCV000216489
RCV001577165
RCV003997021
ClinVar Variation:
216355
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Thr796Ile
CA339316
NM_000251.3:c.2387C>T