ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825918442
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
820652
ClinVar RCV Id:
RCV001014317
RCV001299229
RCV003473572
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Arg705His
CA375361015
NM_001162426.2:c.2114G>A