ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658681686
Gene: DYNC1H1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
472541
ClinVar RCV Id:
RCV000552623
RCV001568025
RCV002341430
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001367.2:p.Val1750Met
CA7352386
NM_001376.5:c.5248G>A