ClinGen Allele Registry
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Canonical Allele Identifier:
PA658671689
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-3.3254248538
Linked Data - NCBI & NCI
ClinVar Allele:
472775
ClinVar RCV:
RCV000566316
RCV000764422
RCV000808811
RCV001551071
RCV003459360
RCV004001041
ClinVar Variation:
483732
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Val155Ala
CA346730530
NM_000251.3:c.464T>C