ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658737782
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-3.6717678255
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000580175
RCV000696098
RCV004001255
ClinVar Variation:
489913
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Arg406Leu
CA346734041
NM_000251.3:c.1217G>T