ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828059011
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000054879
RCV000456358
RCV000782214
RCV002371892
ClinVar Variation:
64704
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Val12Ile
CA007561
NM_001362177.1:c.34G>A