ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825954472
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
466124
ClinVar RCV Id:
RCV000547456
RCV001019199
RCV003999220
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Met1066Arg
CA375367039
NM_001162426.2:c.3197T>G