Canonical Allele Identifier: PA2828060527
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 48931
ClinVar RCV Id: RCV000042182 RCV000130869 RCV000189820 RCV000270998 RCV000713909 RCV001083830
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Asn641Ser
CA006241
NM_001362177.1:c.1922A>G