Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2828059242

Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 237724

ClinVar RCV Id: RCV000232948 RCV001085260 RCV002255322

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349106.1:p.Lys140Arg	CA038935 NM_001362177.1:c.419A>G