ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA331658
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-5.095790337
Linked Data - NCBI & NCI
ClinVar Allele:
96646
ClinVar RCV:
RCV000216132
RCV000541467
RCV003159097
RCV003997179
ClinVar Variation:
91171
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Ile216Val
CA021692
NM_000251.3:c.646A>G