ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825956949
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207635
ClinVar RCV Id:
RCV000189854
RCV003372645
RCV003505102
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Ile673Thr
CA319301
NM_001162427.2:c.2018T>C