ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826095308
Gene: TCTN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
257400
ClinVar RCV Id:
RCV000250228
RCV000545652
RCV000403561
RCV001555631
RCV003165691
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001167446.1:p.Val44Met
CA6786519
NM_001173975.3:c.130G>A