ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828061199
Gene: TSC1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
202464
ClinVar RCV:
RCV000189860
RCV001079866
RCV002256098
RCV003996858
ClinVar Variation:
207641
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Glu923Lys
CA319317
NM_001362177.1:c.2767G>A