ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825954992
Gene: TSC1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Ala122Val
CA037947
NM_001162427.2:c.365C>T