ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828059657
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411231
ClinVar RCV Id:
RCV000469111
RCV004022869
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Pro297His
CA16612640
NM_001362177.1:c.890C>A