ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645476451
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-4.976462847
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000234169
RCV000235791
RCV000564878
RCV000662845
RCV000767184
RCV001353614
ClinVar Variation:
237394
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Thr934Lys
CA037620
NM_000251.3:c.2801C>A