ClinGen Allele Registry
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Canonical Allele Identifier:
PA645475510
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-3.3451201032
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000213595
RCV002518276
RCV003997857
ClinVar Variation:
230720
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Leu736Phe
CA10578000
NM_000251.3:c.2206C>T