ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658673023
Gene: MSH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
455561
ClinVar RCV Id:
RCV000554251
RCV000565463
RCV004003746
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Ile794Lys
CA346730102
NM_000251.3:c.2381T>A