ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA170016
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-2.1237506232
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000132529
RCV000409026
RCV000540856
RCV001354926
RCV001650987
RCV001818334
ClinVar Variation:
143010
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Asn792Ser
CA020519
NM_000251.3:c.2375A>G