Canonical Allele Identifier: PA262379
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 49067
ClinVar RCV Id: RCV000042320 RCV000441826 RCV000687950 RCV001169731 RCV002258784 RCV003407416
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Val200Ile
CA007868
NM_000368.5:c.598G>A