ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828059923
Gene: TSC1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000437432
RCV000565665
RCV000606212
RCV001085125
RCV001167779
RCV001269495
RCV003950339
ClinVar Variation:
377283
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Ser409Thr
CA029137
NM_001362177.1:c.1226G>C