ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827015350
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49829
ClinVar RCV Id:
RCV000043095
RCV000190032
RCV001022345
RCV001088217
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Ser1208Leu
CA020322
NM_001318831.2:c.3623C>T