ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827015368
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000644088
RCV002483857
ClinVar Variation:
535870
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Arg1213Trp
CA051001
NM_001318831.2:c.3637C>T