ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645475467
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-3.9064899064
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000469918
RCV000481613
RCV000491178
RCV004000781
RCV004533186
ClinVar Variation:
408499
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Ile708Val
CA034231
NM_000251.3:c.2122A>G