Canonical Allele Identifier: PA195678
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 65229
ClinVar RCV Id: RCV000055449 RCV000166370 RCV000813618 RCV000518605 RCV003996481
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Val1500Met
CA020558
NM_000548.5:c.4498G>A