ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825956437
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
466039
ClinVar RCV Id:
RCV000559070
RCV002298658
RCV002404458
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Pro584Ser
CA029621
NM_001162426.2:c.1750C>T