ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA247573
Gene: TCTN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_078825.2:p.Val298Ile
CA247572
NM_024549.6:c.892G>A