ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645475523
Gene: MSH2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
419402
ClinVar RCV:
RCV000492043
ClinVar Variation:
428504
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Ile747del
CA645369197
NM_000251.3:c.2235_2237del