ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA194132
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.4492572383
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000165745
RCV000813236
ClinVar Variation:
90701
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Arg524Leu
CA018649
NM_000251.3:c.1571G>T