Canonical Allele Identifier: PA2828410427
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_001357333.1:p.Asn229Ser
CA394312549
NM_001370404.1:c.686A>G