ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658672055
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-4.4563502065
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000572560
RCV000629913
RCV000708829
RCV002483525
RCV003320694
ClinVar Variation:
480911
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Asn331Ser
CA042047
NM_000251.3:c.992A>G