ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA338685
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-2.6340258393
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000199509
RCV000215183
RCV000411596
ClinVar Variation:
216353
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Ala765Thr
CA338683
NM_000251.3:c.2293G>A