Canonical Allele Identifier: PA2825156134
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1395046
ClinVar RCV Id: RCV001901075
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Leu317Met
CA375368700
NM_000368.5:c.949C>A