ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA270863
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-6.2298702649
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000144617
ClinVar Variation:
156503
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Gln344Lys
CA016899
NM_000251.3:c.1030C>A