ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828416830
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000528235
RCV001019094
RCV001355181
RCV003999343
ClinVar Variation:
468192
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Leu309Phe
CA394315433
NM_001370405.1:c.925C>T