ClinGen Allele Registry
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Canonical Allele Identifier:
PA645475833
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-3.0777707833
Linked Data - NCBI & NCI
ClinVar Allele:
232639
ClinVar RCV:
RCV000221679
RCV000985803
RCV001236583
RCV003153497
RCV003997783
ClinVar Variation:
229933
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Gln816Arg
CA035821
NM_000251.3:c.2447A>G