ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825955785
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
534444
ClinVar RCV Id:
RCV000642010
RCV001771876
RCV002406392
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Thr366Lys
CA375366761
NM_001162427.2:c.1097C>A