ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915987317
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
48842
ClinVar RCV Id:
RCV000042091
RCV001380989
RCV002286701
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Leu61Pro
CA005453
NM_001162427.2:c.182T>C