ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915986677
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5104
ClinVar RCV Id:
RCV000005411
RCV000042336
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Met224Arg
CA008014
NM_001162426.2:c.671T>G