ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825956616
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000055006
RCV000555785
RCV001013706
ClinVar Variation:
64815
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Pro590His
CA005606
NM_001162427.2:c.1769C>A