ClinGen Allele Registry
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Canonical Allele Identifier:
PA645475844
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-5.8174045592
Linked Data - NCBI & NCI
ClinVar Allele:
232640
ClinVar RCV:
RCV000218052
RCV000629882
RCV001175264
RCV003997937
ClinVar Variation:
231967
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.His839Asp
CA10578009
NM_000251.3:c.2515C>G