ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915986722
Gene: TSC1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Leu250Ser
CA375369705
NM_001162426.2:c.749T>C