Canonical Allele Identifier: PA658659834
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 466110
ClinVar RCV Id: RCV000548959 RCV002438384 RCV003999214
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Ser1003Phe
CA375367938
NM_000368.5:c.3008C>T