ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829974514
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000459822
RCV001584142
RCV002411436
RCV004000725
RCV004529591
ClinVar Variation:
406127
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Ser625Leu
CA034344
NM_021055.3:c.1874C>T