ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827000150
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
529529
ClinVar RCV:
RCV000644157
RCV002422324
RCV004004003
ClinVar Variation:
535927
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Val67Ile
CA035477
NM_001318827.2:c.199G>A