ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916023008
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_001305760.1:p.Val858Met
CA045672
NM_001318831.2:c.2572G>A