ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827037430
Gene: TCTN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001306610.1:p.Ile313Phe
CA239794
NM_001319681.2:c.937A>T