ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA331586
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-2.5944777365
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Asn127Ile
CA021096
NM_000251.3:c.380A>T