ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499230043
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-3.7119707846
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001524677
ClinVar Variation:
1171495
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Asp660Val
CA346728866
NM_000251.3:c.1979A>T