ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827009499
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000043095
RCV000190032
RCV001022345
RCV001088217
ClinVar Variation:
49829
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Ser1337Leu
CA020322
NM_001318829.2:c.4010C>T