ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA357684
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-2.7074416615
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000206397
RCV000219799
RCV000759827
ClinVar Variation:
220156
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Ile770Thr
CA035315
NM_000251.3:c.2309T>C