ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645413092
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411250
ClinVar RCV Id:
RCV000475434
RCV001764439
RCV002348332
RCV003476100
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Tyr176Cys
CA16612498
NM_000368.5:c.527A>G