ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA343183
Gene: TINF2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001092744.1:p.Pro283His
NM_001099274.3:c.848C>A