ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA357656
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-5.4582279665
Linked Data - NCBI & NCI
ClinVar Allele:
221239
ClinVar RCV:
RCV000206123
RCV000519579
RCV000562458
RCV001201177
RCV003997560
ClinVar Variation:
219446
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Ile633Thr
CA350189
NM_000251.3:c.1898T>C