ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827006484
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
187173
ClinVar RCV Id:
RCV000166873
RCV000553448
RCV001762388
RCV003995539
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Ser266Leu
CA023151
NM_001318829.2:c.797C>T