Canonical Allele Identifier: PA2828060259
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 466054
ClinVar RCV Id: RCV000545216 RCV001013813 RCV003419955 RCV003999201
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Ala538Thr
CA200888114
NM_001362177.1:c.1612G>A