Canonical Allele Identifier: PA2828060314
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 466059
ClinVar RCV Id: RCV000527544 RCV002420441
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Gly559Arg
CA030742
NM_001362177.1:c.1675G>A
CA375361224
NM_001362177.1:c.1675G>C