ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828059306
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
64699
ClinVar RCV Id:
RCV000054874
RCV000122199
RCV000465974
RCV000568811
RCV001618239
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Phe164Val
CA008327
NM_001362177.1:c.490T>G