ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA264309
Gene: TSC1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000359.1:p.Leu411Ile
NM_000368.5:c.1231C>A