ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825958074
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411228
ClinVar RCV Id:
RCV000460787
RCV001020253
RCV001554985
RCV004001894
RCV003899930
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Pro1089Leu
CA036899
NM_001162427.2:c.3266C>T