ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA175977
Gene: DTNBP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_115498.2:p.Pro272Ser
CA175975
NM_032122.5:c.814C>T