Canonical Allele Identifier: PA099410
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 48916
ClinVar RCV Id: RCV000042167
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Ala726Glu
CA006104
NM_000368.5:c.2177C>A