Canonical Allele Identifier: PA319247
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207612
ClinVar RCV Id: RCV000782213 RCV001082729 RCV001013799
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Val648Ala
CA030214
NM_000368.5:c.1943T>C