Canonical Allele Identifier: PA645413398
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 411208
ClinVar RCV Id: RCV000456582 RCV000568606 RCV001167710 RCV001538625 RCV004001888
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Leu775Phe
CA16612447
NM_000368.5:c.2323C>T