ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA335912
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-2.8063048677
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000195748
RCV000579733
RCV002307442
RCV003997018
ClinVar Variation:
216349
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Ile691Thr
CA033486
NM_000251.3:c.2072T>C