ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827013788
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_001305760.1:p.Pro654Leu
CA394278313
NM_001318831.2:c.1961C>T