Canonical Allele Identifier: PA2825955938
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 135363
ClinVar RCV Id: RCV000122188 RCV000475364 RCV000562597 RCV001704038 RCV003153402 RCV003997359
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Ser406Arg
CA004748
NM_001162427.2:c.1216A>C
CA375365986
NM_001162427.2:c.1218T>G
CA375365987
NM_001162427.2:c.1218T>A