Canonical Allele Identifier: PA215809
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 41739
ClinVar RCV Id: RCV000034656 RCV000215282 RCV001081977
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Ala1349Val
CA019876
NM_000548.5:c.4046C>T