ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645433023
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406089
ClinVar RCV Id:
RCV000475335
RCV000761103
RCV002436402
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Asp1013Gly
CA16615087
NM_000548.5:c.3038A>G