ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825957204
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411208
ClinVar RCV Id:
RCV000456582
RCV000568606
RCV001167710
RCV001538625
RCV004001888
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Leu774Phe
CA16612447
NM_001162426.2:c.2320C>T