ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA331617
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
3.5200470254
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000076626
RCV000778170
ClinVar Variation:
91122
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Leu173Arg
CA021275
NM_000251.3:c.518T>G