ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658736520
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-4.705425686
Linked Data - NCBI & NCI
ClinVar Allele:
486980
ClinVar RCV:
RCV000590002
RCV001024159
RCV001853977
RCV004002418
ClinVar Variation:
495772
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Gln183Lys
CA346730870
NM_000251.3:c.547C>A