ClinGen Allele Registry
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Canonical Allele Identifier:
PA916043210
Gene: TSC1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
75766
ClinVar RCV:
RCV000055032
RCV002513716
RCV003480047
ClinVar Variation:
64837
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Phe37Ser
CA007609
NM_001362177.1:c.110T>C