ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645470922
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-2.1648101975
Linked Data - NCBI & NCI
ClinVar Allele:
393022
ClinVar RCV:
RCV000460417
RCV000564460
RCV001798836
ClinVar Variation:
408516
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Thr8Arg
CA16610971
NM_000251.3:c.23C>G