ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645471842
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-3.36033805
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000473169
RCV000571885
RCV001526843
RCV004000772
ClinVar Variation:
408456
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Leu223Pro
CA16610792
NM_000251.3:c.668T>C