ClinGen Allele Registry
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Canonical Allele Identifier:
PA094965
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
2.9889528703
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001353990
RCV001854331
RCV002290960
RCV002336228
RCV003997177
ClinVar Variation:
91121
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Leu173Pro
CA021269
NM_000251.3:c.518T>C