Canonical Allele Identifier: PA2828421000
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535895
ClinVar RCV Id: RCV000644117 RCV001022882 RCV001766382 RCV003153784 RCV004003996
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Ala1517Thr
CA052272
NM_001370405.1:c.4549G>A