ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658672395
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-1.4563759314
Linked Data - NCBI & NCI
ClinVar Allele:
472926
ClinVar RCV:
RCV000567509
RCV000685208
RCV000759100
RCV003459384
RCV004001116
ClinVar Variation:
485825
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Met460Thr
CA346724826
NM_000251.3:c.1379T>C