ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA287426
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-4.8216202405
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000115513
RCV000540956
RCV000573883
RCV000662923
RCV003997155
ClinVar Variation:
90822
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Gln645Glu
CA019587
NM_000251.3:c.1933C>G