ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827008054
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000552388
RCV001770442
RCV002456153
RCV003999272
ClinVar Variation:
467951
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Pro805Leu
CA394278313
NM_001318829.2:c.2414C>T