ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828059617
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000464560
RCV001764438
RCV002356699
RCV004001898
ClinVar Variation:
411241
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Tyr285Cys
CA027303
NM_001362177.1:c.854A>G