ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645471575
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-4.6566041974
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000221599
RCV000465648
RCV000483760
RCV000662917
RCV000780457
RCV003997912
ClinVar Variation:
231613
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Ile145Val
CA10577937
NM_000251.3:c.433A>G