ClinGen Allele Registry
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Canonical Allele Identifier:
PA169358
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
2.3032937224
Linked Data - NCBI & NCI
ClinVar Allele:
152481
ClinVar RCV:
RCV000132158
RCV000225952
RCV001192615
RCV001249911
RCV003453092
RCV003477557
ClinVar Variation:
142767
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Arg359Thr
CA017103
NM_000251.3:c.1076G>C