Canonical Allele Identifier: PA2828421539
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49350
ClinVar RCV Id: RCV000042610 RCV000517378
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Pro1666Arg
CA021789
NM_001370405.1:c.4997C>G