Canonical Allele Identifier: PA2573168344
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1504453
ClinVar RCV Id: RCV002028801 RCV003375550
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Met736Leu
CA375360559
NM_000368.5:c.2206A>T
CA375360564
NM_000368.5:c.2206A>C