ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828061010
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207617
ClinVar RCV Id:
RCV000189822
RCV000819696
RCV001017516
RCV003488444
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Lys855Glu
CA319252
NM_001362177.1:c.2563A>G