ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916024322
Gene: TCTN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
160100
ClinVar RCV Id:
RCV000147738
RCV002055937
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001306609.1:p.Ala314Thr
CA272717
NM_001319680.2:c.940G>A