ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA357734
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-2.5614409858
Linked Data - NCBI & NCI
ClinVar Allele:
221225
ClinVar RCV:
RCV000206649
RCV000216074
RCV001582711
RCV003462383
RCV003997643
ClinVar Variation:
220533
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Thr375Ile
CA027026
NM_000251.3:c.1124C>T