ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658659887
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
486575
ClinVar RCV Id:
RCV000564766
RCV001510606
RCV003237944
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Lys1085Glu
CA375366847
NM_000368.5:c.3253A>G