ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658671347
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-2.7767222965
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000538201
RCV000562322
RCV000759824
RCV004003738
ClinVar Variation:
455519
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Lys6Glu
CA030563
NM_000251.3:c.16A>G