ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499230062
Gene: MSH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1049766
ClinVar RCV Id:
RCV001356290
RCV002547631
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Leu279Pro
CA46683995
NM_000251.3:c.836T>C