ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658804108
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-5.4937411138
Linked Data - NCBI & NCI
ClinVar Allele:
518371
ClinVar RCV:
RCV000630060
RCV001015812
RCV003459496
ClinVar Variation:
525776
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Ile841Thr
CA346730757
NM_000251.3:c.2522T>C