ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645474456
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-2.654213591
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000218213
RCV000629673
RCV003462501
ClinVar Variation:
232658
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Val549Ile
CA10577979
NM_000251.3:c.1645G>A