ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825956743
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
466058
ClinVar RCV Id:
RCV000534575
RCV001576295
RCV002256367
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Thr626Ile
CA030690
NM_001162427.2:c.1877C>T