Canonical Allele Identifier: PA645413067
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 231856
ClinVar RCV Id: RCV000222045 RCV001853563
ClinVar Variation Id: 466139
ClinVar RCV Id: RCV000550669 RCV000570579 RCV001584282 RCV003999225
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Leu116Phe
CA037162
NM_000368.5:c.348A>T
CA10578831
NM_000368.5:c.348A>C