Canonical Allele Identifier: PA645413258
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 411213
ClinVar RCV Id: RCV000474044 RCV001013134 RCV002489077
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Val594Glu
CA16612455
NM_000368.5:c.1781T>A