Canonical Allele Identifier: PA187929
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 64814
ClinVar RCV Id: RCV000055005 RCV000055027 RCV000122184 RCV000163292 RCV000372436 RCV000725839 RCV001080106 RCV003934997
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Leu116Val
CA007386
NM_000368.5:c.346T>G