ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828060983
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411266
ClinVar RCV Id:
RCV000471719
RCV001016836
RCV002525597
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Leu844Ile
CA16612444
NM_001362177.1:c.2530T>A