Canonical Allele Identifier: PA2825155762
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1753832
ClinVar RCV Id: RCV002356248
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Phe216Leu
CA375371683
NM_000368.5:c.648T>G
CA375371686
NM_000368.5:c.648T>A
CA375371696
NM_000368.5:c.646T>C