ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA194166
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-1.3953612104
Linked Data - NCBI & NCI
ClinVar Allele:
96308
ClinVar RCV:
RCV000076335
RCV000165763
RCV000172811
RCV000235433
RCV000560664
RCV003162494
ClinVar Variation:
90833
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Met1Val