ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825919398
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
466121
ClinVar RCV Id:
RCV000558171
RCV002258953
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Arg1054Met
CA375367179
NM_001162426.2:c.3161G>T