ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828059285
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000459301
RCV002429539
RCV004001895
ClinVar Variation:
411230
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Val156Ala
CA16612648
NM_001362177.1:c.467T>C