ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825156089
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
800246
ClinVar RCV Id:
RCV000983929
RCV002372704
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Ala307Val
CA039745
NM_000368.5:c.920C>T