Canonical Allele Identifier: PA915987520
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207620
ClinVar RCV Id: RCV000225953 RCV000341814 RCV001705062 RCV002257479 RCV003416119
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Ser990Arg
CA035953
NM_001162427.2:c.2970C>G
CA375367328
NM_001162427.2:c.2970C>A
CA375367339
NM_001162427.2:c.2968A>C