ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825955452
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411287
ClinVar RCV Id:
RCV000461709
RCV000781950
RCV001019502
RCV001696878
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Leu269del
CA5301770
NM_001162427.2:c.804_806del