ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828061142
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207638
ClinVar RCV Id:
RCV000233178
RCV000561979
RCV001705063
RCV003996857
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Arg906Gln
CA319309
NM_001362177.1:c.2717G>A