ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA263030
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49949
ClinVar RCV Id:
RCV000043216
RCV001366989
RCV002247426
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Ser1723Pro
CA022058
NM_000548.5:c.5167T>C