ClinGen Allele Registry
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Canonical Allele Identifier:
PA658671366
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-3.6798297291
Linked Data - NCBI & NCI
ClinVar Allele:
472727
ClinVar RCV:
RCV000574098
RCV000818613
RCV004001044
ClinVar Variation:
483750
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Glu12Gln
CA46666533
NM_000251.3:c.34G>C