Canonical Allele Identifier: PA2499233291
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1057471
ClinVar RCV Id: RCV001366460
ClinVar Variation Id: 1360336
ClinVar RCV Id: RCV001904839
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Gln1616His
CA394308160
NM_000548.5:c.4848A>C
CA394308161
NM_000548.5:c.4848A>T