Canonical Allele Identifier: PA645413474
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 365510
ClinVar RCV Id: RCV000300433 RCV000868465 RCV001017692 RCV001584094 RCV003392219
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Ala989Ser
CA035133
NM_000368.5:c.2965G>T