ClinGen Allele Registry
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Canonical Allele Identifier:
PA211674
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-2.5615938862
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000148637
RCV000160596
RCV000204646
RCV000589876
RCV000765671
RCV002509245
RCV003483522
RCV003998170
RCV004532666
ClinVar Variation:
161299
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Glu643Lys
CA019583
NM_000251.3:c.1927G>A