ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA287448
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-4.110552516
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000115527
RCV000220764
RCV000226077
RCV001257467
RCV003387764
RCV003997278
ClinVar Variation:
127643
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Tyr121Cys
CA021046
NM_000251.3:c.362A>G