ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645475363
Gene: MSH2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000445396
RCV001014350
RCV003449101
ClinVar Variation:
393457
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Cys693Tyr
CA16609274
NM_000251.3:c.2078G>A