Canonical Allele Identifier: PA2827000507
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468174
ClinVar RCV Id: RCV000536042 RCV001025745 RCV003999334 RCV003223650
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Asn192Ser
CA394312549
NM_001318827.2:c.575A>G