Canonical Allele Identifier: PA2828059680
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1439395
ClinVar RCV Id: RCV001941291
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Met304Ile
CA375366202
NM_001362177.1:c.912G>T
CA375366203
NM_001362177.1:c.912G>C
CA375366204
NM_001362177.1:c.912G>A