ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827037397
Gene: TCTN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001306610.1:p.Arg250Trp
CA6786854
NM_001319681.2:c.748C>T