Canonical Allele Identifier: PA162568
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 135362
ClinVar RCV Id: RCV000122187 RCV001040743 RCV003162558 RCV003474734
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Ala428Leu
CA004602
NM_000368.5:c.1282_1283delinsCT