ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825918370
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
41694
ClinVar RCV Id:
RCV000034606
RCV000163280
RCV000317696
RCV000515239
RCV001083195
RCV003934882
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Arg691Gln
CA005908
NM_001162426.2:c.2072G>A