ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645413460
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411266
ClinVar RCV Id:
RCV000471719
RCV001016836
RCV002525597
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Leu965Ile
CA16612444
NM_000368.5:c.2893T>A