Canonical Allele Identifier: PA658801514
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 534477
ClinVar RCV Id: RCV000642048 RCV001013563
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Lys630Gln
CA375362903
NM_000368.5:c.1888A>C