ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825956714
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
534441
ClinVar RCV Id:
RCV001013644
RCV001496179
RCV001554285
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Pro644Leu
CA375362586
NM_001162426.2:c.1931C>T