Canonical Allele Identifier: PA2573168342
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1372864
ClinVar RCV Id: RCV001874887
ClinVar Variation Id: 3231292
ClinVar RCV Id: RCV004525363
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Val723Leu
CA375360790
NM_000368.5:c.2167G>C
CA375360792
NM_000368.5:c.2167G>T