ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828414424
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000687287
RCV003163113
ClinVar Variation:
567263
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Pro1400Leu
CA276753419
NM_001370404.1:c.4199C>T