ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580453073
Gene: TCTN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2085374
ClinVar RCV Id:
RCV003005031
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079085.2:p.Pro117Leu
CA6860876
NM_024809.5:c.350C>T