ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA299383
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-4.8681442281
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000160625
RCV000473583
RCV000562874
RCV000663301
ClinVar Variation:
182588
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Thr234Ile
CA022053
NM_000251.3:c.701C>T