ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828059301
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000231351
RCV001017933
RCV001575957
RCV003407768
ClinVar Variation:
237729
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Arg163Cys
CA039166
NM_001362177.1:c.487C>T