ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658659691
Gene: DTNBP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
450308
ClinVar RCV Id:
RCV000522757
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_898861.1:p.Arg294Leu
CA3643869
NM_183040.2:c.881G>T