ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA299349
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-2.757708481
Linked Data - NCBI & NCI
ClinVar Allele:
179988
ClinVar RCV:
RCV000160606
RCV000212582
RCV000531566
RCV003998480
ClinVar Variation:
182575
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Ala123Gly
CA021080
NM_000251.3:c.368C>G