ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA094985
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
2.7260153685
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000076638
RCV000581973
RCV001240116
RCV001353422
RCV003466968
ClinVar Variation:
91134
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Leu187Pro
CA021405
NM_000251.3:c.560T>C