Canonical Allele Identifier: PA2828060759
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2562851
ClinVar RCV Id: RCV003296844
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Asp751Tyr
CA375369863
NM_001362177.1:c.2251G>T