ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825954754
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5105
ClinVar RCV Id:
RCV000005412
RCV000042306
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Leu180Pro
CA007706
NM_001162426.2:c.539T>C