ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645474696
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-3.0708404652
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000467112
RCV001013110
RCV004000784
ClinVar Variation:
408506
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Gln593Glu
CA16611035
NM_000251.3:c.1777C>G