Canonical Allele Identifier: PA2573168109
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1470924
ClinVar RCV Id: RCV001973393 RCV002442966
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Glu423Asp
CA375366217
NM_000368.5:c.1269G>T
CA375366218
NM_000368.5:c.1269G>C