ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829981559
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
400919
ClinVar RCV:
RCV000459338
RCV002339131
ClinVar Variation:
406004
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Glu1470Lys
CA051548
NM_021055.3:c.4408G>A