ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828059168
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
486585
ClinVar RCV Id:
RCV000574390
RCV000762584
RCV000692073
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Pro110Leu
CA375371402
NM_001362177.1:c.329C>T