ClinGen Allele Registry
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Canonical Allele Identifier:
PA915986644
Gene: TSC1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
441321
ClinVar RCV:
RCV000517515
RCV000537301
RCV001020229
ClinVar Variation:
448716
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Pro114Ser
CA036801
NM_001162426.2:c.340C>T