ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA294501
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-0.7436067265
Linked Data - NCBI & NCI
ClinVar Allele:
96044
ClinVar RCV:
RCV000132166
RCV000212599
RCV000411777
RCV000765665
RCV000781558
RCV001083003
RCV001356152
RCV001798264
ClinVar Variation:
90569
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Arg406Gln
CA017527
NM_000251.3:c.1217G>A