Canonical Allele Identifier: PA2828060708
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 570832
ClinVar RCV Id: RCV000691792
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Ser719Leu
CA375370295
NM_001362177.1:c.2156C>T