ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825955440
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1002179
ClinVar RCV Id:
RCV001298562
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Arg265Leu
CA375368701
NM_001162427.2:c.794G>T