ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828060985
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
466104
ClinVar RCV Id:
RCV000558701
RCV000608003
RCV001016839
RCV003999211
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Tyr845His
CA034926
NM_001362177.1:c.2533T>C