ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916043235
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
466148
ClinVar RCV Id:
RCV000566027
RCV003476286
RCV000558926
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Ala65Thr
CA375372741
NM_001362177.1:c.193G>A