Canonical Allele Identifier: PA2828060000
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 186320
ClinVar RCV Id: RCV000165896 RCV000468971 RCV001721075 RCV001818385
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Ala441Gly
CA005191
NM_001362177.1:c.1322C>G