ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA299317
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-3.3275386672
Linked Data - NCBI & NCI
ClinVar Allele:
96307
96309
ClinVar RCV:
RCV000076334
RCV000076336
RCV000160588
RCV000409939
RCV000505793
RCV000524369
RCV000656870
RCV001308701
RCV001358333
RCV002415556
RCV002498368
RCV004537292
ClinVar Variation:
90832
90834
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Met1Leu