ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658672694
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-2.0519895847
Linked Data - NCBI & NCI
ClinVar Allele:
451328
ClinVar RCV:
RCV000534975
RCV000561432
RCV001572545
ClinVar Variation:
455522
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Pro591Thr
CA346728271
NM_000251.3:c.1771C>A