ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825917713
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
466025
ClinVar RCV Id:
RCV000534300
RCV002257807
RCV001195754
RCV001545105
RCV003999189
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Gly442Val
CA375366083
NM_001162426.2:c.1325G>T