ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA191723
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-2.4073563974
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000164768
RCV000167935
RCV000486548
RCV003995363
ClinVar Variation:
185360
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Thr495Ile
CA018409
NM_000251.3:c.1484C>T