ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645476040
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-3.6419254378
Linked Data - NCBI & NCI
ClinVar Allele:
392841
ClinVar RCV:
RCV000460192
RCV000580161
RCV003317217
RCV004000789
ClinVar Variation:
408526
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Ile865Thr
CA036766
NM_000251.3:c.2594T>C