ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA299315
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-4.0795095385
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000160587
RCV000573867
RCV000821313
RCV003998471
ClinVar Variation:
182560
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Thr495Ala
CA018401
NM_000251.3:c.1483A>G