Canonical Allele Identifier: PA2827010385
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468145
ClinVar RCV Id: RCV000557244 RCV000568990
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Asn1616Lys
CA394314174
NM_001318829.2:c.4848C>A
CA394314180
NM_001318829.2:c.4848C>G