ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828061190
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000229859
RCV001589171
RCV002321855
RCV003390983
ClinVar Variation:
237716
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Ser921Asn
CA10582622
NM_001362177.1:c.2762G>A