ClinGen Allele Registry
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Canonical Allele Identifier:
PA287436
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-3.9024802664
Linked Data - NCBI & NCI
ClinVar Allele:
133095
ClinVar RCV:
RCV000115520
RCV000196855
RCV000221197
RCV003997274
ClinVar Variation:
127638
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Glu852Gln
CA020723
NM_000251.3:c.2554G>C