ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828415610
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
401449
ClinVar RCV:
RCV000457700
RCV001023824
RCV003463867
RCV004000717
ClinVar Variation:
406083
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Glu1713Lys
CA16615048
NM_001370404.1:c.5137G>A