ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA331646
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
3.3079638453
Linked Data - NCBI & NCI
ClinVar Allele:
96623
ClinVar RCV:
RCV000076652
RCV000811653
RCV002354270
ClinVar Variation:
91148
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Val200Asp
CA021536
NM_000251.3:c.599T>A