ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828416314
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
535892
ClinVar RCV Id:
RCV000644114
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Thr147Lys
CA394308347
NM_001370405.1:c.440C>A