ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825955774
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411267
ClinVar RCV Id:
RCV000457363
RCV000568537
RCV002489078
RCV004001905
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Gln362Arg
CA16612643
NM_001162427.2:c.1085A>G