ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645472831
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-3.9922335748
Linked Data - NCBI & NCI
ClinVar Allele:
232560
ClinVar RCV:
RCV000219588
RCV000461288
RCV003469076
RCV003998553
ClinVar Variation:
233405
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Phe313Ser
CA041188
NM_000251.3:c.938T>C