ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA094751
Gene: DYNC1H1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
497397
ClinVar RCV Id:
RCV000594304
RCV002532369
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001367.2:p.Glu3048Lys
CA391011198
NM_001376.5:c.9142G>A