ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825917695
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1692389
ClinVar RCV Id:
RCV002257180
RCV004005561
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.His436Asp
CA375366126
NM_001162426.2:c.1306C>G