ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645471614
Gene: MSH2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000221949
RCV001365859
RCV003997762
ClinVar Variation:
229726
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Val163Ala
CA10577939
NM_000251.3:c.488T>C