ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828059662
Gene: TSC1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000229298
RCV001010360
RCV001813773
RCV003469148
RCV003998769
ClinVar Variation:
237697
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Pro298His
CA10582630
NM_001362177.1:c.893C>A