ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827020355
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
265281
ClinVar RCV Id:
RCV000256049
RCV000707658
RCV002338812
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Glu1527Lys
CA10588598
NM_001318832.2:c.4579G>A