ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829983750
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406083
ClinVar RCV Id:
RCV000457700
RCV001023824
RCV003463867
RCV004000717
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Glu1714Lys
CA16615048
NM_021055.3:c.5140G>A