ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827020622
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
466317
ClinVar RCV:
RCV000545542
RCV004024053
ClinVar Variation:
468126
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Thr1605Asn
CA394309184
NM_001318832.2:c.4814C>A