Canonical Allele Identifier: PA262249
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 48896
ClinVar RCV Id: RCV000042147
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Gln701His
CA006014
NM_000368.5:c.2103G>T
CA375361047
NM_000368.5:c.2103G>C