ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645396127
Gene: DYNC1H1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
285546
ClinVar RCV Id:
RCV000374519
RCV000725688
RCV001114649
RCV001085654
RCV002374466
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001367.2:p.Arg2398Cys
CA7352756
NM_001376.5:c.7192C>T