ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645474384
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-3.050802199
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000219106
RCV000475338
RCV001589154
RCV002485427
RCV003462508
RCV003998020
ClinVar Variation:
233001
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Ser494Pro
CA028810
NM_000251.3:c.1480T>C