ClinGen Allele Registry
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Canonical Allele Identifier:
PA645413191
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000464560
RCV001764438
RCV002356699
RCV004001898
ClinVar Variation:
411241
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Tyr406Cys
CA027303
NM_000368.5:c.1217A>G