ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825954570
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
534469
ClinVar RCV Id:
RCV000642038
RCV001584479
RCV002343282
RCV004003966
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Thr124Ala
CA037338
NM_001162426.2:c.370A>G