ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645396060
Gene: DYNC1H1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
246361
ClinVar RCV Id:
RCV000236258
RCV000649564
RCV002057258
RCV002338774
RCV003897578
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001367.2:p.Val1504Ile
CA7352246
NM_001376.5:c.4510G>A