ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139689518
Gene: TSC1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Thr335Ile
CA375368520
NM_001162426.2:c.1004C>T