ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA357476
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-4.8675645918
Linked Data - NCBI & NCI
ClinVar Allele:
221249
ClinVar RCV:
RCV000204877
RCV000491044
RCV001570632
RCV003997603
ClinVar Variation:
220024
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Ala848Ser
CA036472
NM_000251.3:c.2542G>T