ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA095181
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
3.1070212414
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000076610
RCV000492044
RCV003593902
ClinVar Variation:
91107
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Val163Asp
CA021206
NM_000251.3:c.488T>A