ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645413392
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411249
ClinVar RCV Id:
RCV000467121
RCV000575617
RCV000764812
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Arg768His
CA16612757
NM_000368.5:c.2303G>A