ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825958090
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
534453
ClinVar RCV Id:
RCV000642019
RCV001020300
RCV004003961
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Pro1094Leu
CA037070
NM_001162427.2:c.3281C>T