ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658673230
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-3.3470157557
Linked Data - NCBI & NCI
ClinVar Allele:
473003
ClinVar RCV:
RCV000572179
RCV000697646
RCV004000845
ClinVar Variation:
479786
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Val915Ala
CA346731919
NM_000251.3:c.2744T>C