Canonical Allele Identifier: PA2499231780
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1037077
ClinVar RCV Id: RCV001340174
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Lys708Gln
CA375361005
NM_000368.5:c.2122A>C