ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658672113
Gene: MSH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
483753
ClinVar RCV Id:
RCV000563990
RCV002528140
RCV003451252
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Ile356Lys
CA346733264
NM_000251.3:c.1067T>A