ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828061072
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
466110
ClinVar RCV Id:
RCV000548959
RCV002438384
RCV003999214
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Ser882Phe
CA375367938
NM_001362177.1:c.2645C>T