ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA192294
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-1.2988218343
Linked Data - NCBI & NCI
ClinVar Allele:
181985
ClinVar RCV:
RCV000165012
RCV000196615
RCV000522265
RCV000587565
RCV003462160
RCV003995381
ClinVar Variation:
185569
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.His785Pro
CA020494
NM_000251.3:c.2354A>C