ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825955835
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
486593
ClinVar RCV Id:
RCV000567662
RCV001836841
RCV004001140
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Ala377Val
CA375366183
NM_001162427.2:c.1130C>T