ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645474692
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-2.3750975338
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000479480
RCV000551068
RCV000581059
RCV000766532
RCV003470543
RCV004002307
ClinVar Variation:
419601
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Val589Ile
CA16617588
NM_000251.3:c.1765G>A