ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499233337
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1047812
ClinVar RCV Id:
RCV001352578
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Thr1542Asn
CA394304832
NM_000548.5:c.4625C>A