ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828094571
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
573348
ClinVar RCV Id:
RCV000694999
RCV001022741
RCV003999632
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Ser1464Leu
CA394304471
NM_001363528.2:c.4391C>T