Canonical Allele Identifier: PA2828415021
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468115
ClinVar RCV Id: RCV002330908 RCV000547996
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Tyr1564Cys
CA052633
NM_001370404.1:c.4691A>G