ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA331527
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-4.6661423933
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000236323
RCV000410329
RCV000491427
RCV000552050
RCV002247471
RCV003153357
ClinVar Variation:
90998
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Leu851Ile
CA020709
NM_000251.3:c.2551C>A