ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829982563
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49335
ClinVar RCV Id:
RCV000042595
RCV000359328
RCV000543686
RCV002336159
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Asn1608Ser
CA021383
NM_021055.3:c.4823A>G