Canonical Allele Identifier: PA2825958044
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 486570
ClinVar RCV Id: RCV000573969 RCV000698607
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Ala1078Val
CA036688
NM_001162427.2:c.3233C>T