ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA160867
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-4.5959599302
Linked Data - NCBI & NCI
ClinVar Allele:
138580
ClinVar RCV:
RCV000121558
RCV000771511
RCV000808087
RCV003997347
RCV004528832
ClinVar Variation:
134841
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Ala70Thr
CA019989
NM_000251.3:c.208G>A