ClinGen Allele Registry
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Canonical Allele Identifier:
PA915987460
Gene: TSC1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
459004
ClinVar RCV:
RCV000532264
RCV001018500
RCV001821552
ClinVar Variation:
466118
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Arg976Trp
CA035767
NM_001162427.2:c.2926C>T