ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658672933
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-3.2204225333
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000563438
RCV000629938
RCV004000854
ClinVar Variation:
479813
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Ile708Thr
CA346729275
NM_000251.3:c.2123T>C