ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827013345
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_001305760.1:p.Ile523Val
CA10583305
NM_001318831.2:c.1567A>G