Canonical Allele Identifier: PA2825181299
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1462576
ClinVar RCV Id: RCV001968545 RCV003382753
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Asp514Glu
CA394326376
NM_000548.5:c.1542C>G
CA394326378
NM_000548.5:c.1542C>A