ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825955430
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
582295
ClinVar RCV Id:
RCV000706334
RCV002442534
RCV003424301
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Ser262Phe
CA039798
NM_001162427.2:c.785C>T