ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645471276
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-3.7806936313
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000216857
RCV000235359
RCV001320134
RCV002254690
RCV003997919
ClinVar Variation:
231690
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Ser87Tyr
CA10577927
NM_000251.3:c.260C>A