ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645474687
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-1.7142263818
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000220254
RCV000230549
RCV000663329
RCV001358260
RCV001800541
RCV001818514
ClinVar Variation:
229675
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Asn583Ile
CA10577984
NM_000251.3:c.1748A>T