ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA190949
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-2.9020885876
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000164439
RCV000484878
RCV000541354
RCV000656884
RCV000663223
RCV001356683
RCV003997165
ClinVar Variation:
90999
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Glu853Ala
CA020731
NM_000251.3:c.2558A>C