ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825918479
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2855610
ClinVar RCV Id:
RCV003614801
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Arg714Pro
CA375360900
NM_001162426.2:c.2141G>C