Canonical Allele Identifier: PA645413196
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 411231
ClinVar RCV Id: RCV000469111 RCV004022869
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Pro418His
CA16612640
NM_000368.5:c.1253C>A