ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658673124
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-3.9250947806
Linked Data - NCBI & NCI
ClinVar Allele:
472889
ClinVar RCV:
RCV000574140
RCV000679307
RCV000694840
RCV003470822
RCV004000859
ClinVar Variation:
479836
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Ile857Val
CA036657
NM_000251.3:c.2569A>G