Canonical Allele Identifier: PA2827000451
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 238090
ClinVar RCV Id: RCV000230979 RCV001025142 RCV003469154 RCV003998842
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Ser174Phe
CA10583283
NM_001318827.2:c.521C>T