ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA099448
Gene: TSC1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000359.1:p.Leu180Pro
NM_000368.5:c.539T>C