ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645432418
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237983
ClinVar RCV Id:
RCV000564827
RCV000596298
RCV001084101
RCV003998811
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Ile723Val
CA10583305
NM_000548.5:c.2167A>G