ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658672057
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
1.9414702706
Linked Data - NCBI & NCI
ClinVar Allele:
443257
ClinVar RCV:
RCV000521057
RCV002384007
RCV003449485
ClinVar Variation:
450154
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Cys333Trp
CA346733125
NM_000251.3:c.999T>G