ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645475367
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
2.0817223983
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000491777
RCV001356221
RCV003593972
ClinVar Variation:
428522
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Phe694Ser
CA346729201
NM_000251.3:c.2081T>C