ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916043231
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
64818
ClinVar RCV Id:
RCV000055010
RCV002273951
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.His60Pro
CA007715
NM_001362177.1:c.179A>C