ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658736139
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-1.86218128
Linked Data - NCBI & NCI
ClinVar Allele:
482415
ClinVar RCV:
RCV000580951
RCV000629862
RCV001090210
RCV001193290
RCV004001260
ClinVar Variation:
489943
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Arg96Cys
CA346729600
NM_000251.3:c.286C>T