ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA299387
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-5.725326201
Linked Data - NCBI & NCI
ClinVar Allele:
180000
ClinVar RCV:
RCV000160627
RCV000196535
RCV000491536
RCV000662661
RCV002265637
ClinVar Variation:
182590
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Ala256Thr
CA022219
NM_000251.3:c.766G>A