ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA287430
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-1.9934243925
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000076457
RCV000217041
RCV000410216
RCV000524385
RCV000586175
RCV001804168
ClinVar Variation:
90955
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Ile770Val
CA020467
NM_000251.3:c.2308A>G