ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658681379
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
486634
ClinVar RCV Id:
RCV000569459
RCV000702221
RCV001532311
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Pro1766Ser
CA054989
NM_000548.5:c.5296C>T