Canonical Allele Identifier: PA2828059383
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2919123
ClinVar RCV Id: RCV003615509
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Pro190Ser
CA375368728
NM_001362177.1:c.568C>T