ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828059256
Gene: TSC1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Ala148Asp
CA375369454
NM_001362177.1:c.443C>A