ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827037267
Gene: TCTN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194019
ClinVar RCV Id:
RCV000243338
RCV000724004
RCV001085845
RCV003137704
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001306609.1:p.Ile442Phe
CA239794
NM_001319680.2:c.1324A>T