ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579912991
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-3.6746083358
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Gln252Lys
CA346732342
NM_000251.3:c.754C>A