ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA336433
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-2.5644214338
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000196465
RCV000560982
RCV000589091
RCV001140258
RCV002500622
RCV003997019
ClinVar Variation:
216352
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Thr754Ala
CA035098
NM_000251.3:c.2260A>G