ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658659451
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
486560
ClinVar RCV Id:
RCV000569391
RCV000642000
RCV001570618
RCV004001132
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Asp156Ala
CA200901578
NM_000368.5:c.467A>C