ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825954833
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49067
ClinVar RCV Id:
RCV000042320
RCV000441826
RCV000687950
RCV001169731
RCV002258784
RCV003407416
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Val200Ile
CA007868
NM_001162426.2:c.598G>A