ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658671687
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-2.9674364323
Linked Data - NCBI & NCI
ClinVar Allele:
472779
ClinVar RCV:
RCV000568245
RCV000630061
RCV001584374
RCV004000906
ClinVar Variation:
480910
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Ala154Thr
CA038871
NM_000251.3:c.460G>A