Canonical Allele Identifier: PA915962125
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 646276
ClinVar RCV Id: RCV000800528 RCV004028029
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Arg706Ser
CA375361019
NM_000368.5:c.2116C>A