ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827004582
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65229
ClinVar RCV Id:
RCV000055449
RCV000166370
RCV000813618
RCV000518605
RCV003996481
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Val1397Met
CA020558
NM_001318827.2:c.4189G>A