ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915987357
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
64704
ClinVar RCV Id:
RCV000054879
RCV000456358
RCV000782214
RCV002371892
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Val82Ile
CA007561
NM_001162427.2:c.244G>A