ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825955579
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000055009
RCV000217275
RCV000642024
RCV000725515
ClinVar Variation:
64817
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Pro311Ser
CA004402
NM_001162427.2:c.931C>T