ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA211676
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-3.3058056791
Linked Data - NCBI & NCI
ClinVar Allele:
171077
ClinVar RCV:
RCV000148638
RCV000411526
RCV000471467
RCV000491584
RCV000588732
RCV001175338
RCV004532667
ClinVar Variation:
161300
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Ile735Val
CA020218
NM_000251.3:c.2203A>G