ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA167008
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141980
ClinVar RCV Id:
RCV000130736
RCV000726223
RCV000764813
RCV001084392
RCV003998074
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Thr314Met
CA008439
NM_000368.5:c.941C>T