ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658737927
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-3.326035611
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000583308
RCV001359134
RCV003465307
RCV004002328
ClinVar Variation:
491763
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Val435Leu
CA346724556
NM_000251.3:c.1303G>C