ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA357374
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-5.6206660127
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000204214
RCV000565649
RCV001556775
RCV003315421
RCV003997641
ClinVar Variation:
220492
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Arg214Ile
CA039588
NM_000251.3:c.641G>T