ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658659706
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
466066
ClinVar RCV Id:
RCV000554328
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Leu714His
CA375360913
NM_000368.5:c.2141T>A