ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658671345
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-2.9177960539
Linked Data - NCBI & NCI
ClinVar Allele:
451259
ClinVar RCV:
RCV000546654
RCV000579789
RCV002274057
RCV004003736
ClinVar Variation:
455500
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Pro5Arg
CA346728432
NM_000251.3:c.14C>G