ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825956468
Gene: TSC1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Leu556Phe
CA375363304
NM_001162427.2:c.1666C>T