ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658804903
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
536104
ClinVar RCV Id:
RCV001026437
RCV000644409
RCV003328614
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Asn248Ser
CA056283
NM_000548.5:c.743A>G