Canonical Allele Identifier: PA2828060355
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 64734
ClinVar RCV Id: RCV000054914 RCV000564681 RCV000724243 RCV001083507 RCV003407435
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Asp572His
CA005916
NM_001362177.1:c.1714G>C