ClinGen Allele Registry
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Canonical Allele Identifier:
PA658671364
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-2.2615672063
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000530789
RCV003362822
RCV003470713
ClinVar Variation:
455590
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Glu12Ala
CA346728510
NM_000251.3:c.35A>C