ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA299355
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-2.7634480912
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000160609
RCV000218725
RCV000456427
RCV003453268
ClinVar Variation:
182578
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Ala763Val
CA020406
NM_000251.3:c.2288C>T