ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915986927
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
569435
ClinVar RCV Id:
RCV000690061
RCV004026347
RCV003999539
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Gln325Arg
CA375368643
NM_001162426.2:c.974A>G