ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915962111
Gene: TSC1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.His606Tyr
CA375363328
NM_000368.5:c.1816C>T