ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825957978
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
233013
ClinVar RCV Id:
RCV000213461
RCV000799771
RCV001562491
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Lys1048Arg
CA10578822
NM_001162427.2:c.3143A>G