ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658804061
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-3.1998238439
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000629738
RCV001179138
RCV004002773
ClinVar Variation:
525622
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Lys661Glu
CA346728873
NM_000251.3:c.1981A>G