ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579910906
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-3.6891138079
Linked Data - NCBI & NCI
ClinVar Allele:
826558
ClinVar RCV:
RCV001045055
ClinVar Variation:
842611
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Gln130Glu
CA346730363
NM_000251.3:c.388C>G