ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA247574
Gene: TCTN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001076007.1:p.Val312Ile
CA247572
NM_001082538.3:c.934G>A