ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829978554
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
535906
ClinVar RCV Id:
RCV000644133
RCV001019823
RCV001756075
RCV003459536
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Val1059Met
CA045672
NM_021055.3:c.3175G>A