Canonical Allele Identifier: PA2828410331
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49953
ClinVar RCV Id: RCV000043220 RCV000473187 RCV001024627 RCV001719786 RCV003153330
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Ala196Thr
CA022594
NM_001370404.1:c.586G>A