ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645471361
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-3.1464951627
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000221016
RCV000702606
RCV003469023
ClinVar Variation:
231062
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Ala107Gly
CA10577932
NM_000251.3:c.320C>G