ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645475225
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
2.5703289887
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000501150
RCV003449402
ClinVar Variation:
433893
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Ser676Leu
CA346729109
NM_000251.3:c.2027C>T