ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829973015
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000055478
RCV000475576
RCV001010823
ClinVar Variation:
65257
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Ser433Cys
CA014387
NM_021055.3:c.1298C>G