Canonical Allele Identifier: PA2828417522
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 64992
ClinVar RCV Id: RCV000055196 RCV000547543 RCV003298099
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.His522Tyr
CA015081
NM_001370405.1:c.1564C>T