ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA095162
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-3.1932893742
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000030251
RCV000130254
RCV000236541
RCV000536977
RCV000657039
RCV000662359
RCV004532423
ClinVar Variation:
36575
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Val102Ile
CA020996
NM_000251.3:c.304G>A