Canonical Allele Identifier: PA2828060960
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 534470
ClinVar RCV Id: RCV000642040 RCV002440290 RCV003313121
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Gln835Arg
CA375368832
NM_001362177.1:c.2504A>G