ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645474657
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-3.0651882264
Linked Data - NCBI & NCI
ClinVar Allele:
405797
ClinVar RCV:
RCV000484349
RCV000581019
RCV000630236
RCV004003366
ClinVar Variation:
421910
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Ile577Val
CA030657
NM_000251.3:c.1729A>G