ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA331216
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-3.7302957031
Linked Data - NCBI & NCI
ClinVar Allele:
95991
ClinVar RCV:
RCV000629705
RCV002408591
RCV003460713
ClinVar Variation:
90516
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Glu357Gln
CA017022
NM_000251.3:c.1069G>C