Canonical Allele Identifier: PA319268
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207622
ClinVar RCV Id: RCV000189830 RCV000697883 RCV001020374 RCV003996853
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Asn1157Asp
CA319266
NM_000368.5:c.3469A>G