ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828412605
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
465291
ClinVar RCV:
RCV000552388
RCV001770442
RCV002456153
RCV003999272
ClinVar Variation:
467951
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Pro854Leu
CA394278313
NM_001370404.1:c.2561C>T