ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645475460
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-3.3311380696
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000222410
RCV000227730
RCV000411876
RCV000483732
RCV000708841
RCV001356541
ClinVar Variation:
233375
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Ile704Thr
CA033790
NM_000251.3:c.2111T>C