ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916005058
Gene: DTNBP1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001258597.1:p.Gln86Ter
NM_001271668.2:c.256C>T