ClinGen Allele Registry
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Canonical Allele Identifier:
PA916043222
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
486571
ClinVar RCV Id:
RCV000563590
RCV000641975
RCV000764814
RCV003431131
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Ala52Val
CA037947
NM_001362177.1:c.155C>T