ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825956664
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
534477
ClinVar RCV Id:
RCV000642048
RCV001013563
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Lys629Gln
CA375362903
NM_001162426.2:c.1885A>C