ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830056272
Gene: DTNBP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1518162
ClinVar RCV Id:
RCV002041289
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_115498.2:p.Val95Met
CA3644178
NM_032122.5:c.283G>A