ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828061130
Gene: TSC1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000531464
RCV003352915
ClinVar Variation:
466116
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Pro902Leu
CA375367614
NM_001362177.1:c.2705C>T