ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645506689
Gene: TCTN3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000481457
RCV001856873
RCV004535529
ClinVar Variation:
423293
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056446.4:p.Pro513Ser
CA5620803
NM_015631.6:c.1537C>T