ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825956399
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207610
ClinVar RCV Id:
RCV001079404
RCV001013102
RCV000726144
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Thr541Met
CA029749
NM_001162427.2:c.1622C>T