ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825577692
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000569459
RCV000702221
RCV001532311
ClinVar Variation:
486634
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Pro1743Ser
CA054989
NM_001114382.3:c.5227C>T