Canonical Allele Identifier: PA2828059407
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1441676
ClinVar RCV Id: RCV001967986
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Met197Leu
CA375368693
NM_001362177.1:c.589A>T
CA375368695
NM_001362177.1:c.589A>C