ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658672646
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-2.1506254984
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000569949
RCV001359194
RCV004000858
ClinVar Variation:
479830
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Thr568Arg
CA346728123
NM_000251.3:c.1703C>G