ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645396149
Gene: DYNC1H1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
429556
ClinVar RCV Id:
RCV000493975
RCV002227479
RCV003642892
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001367.2:p.Ile2759Val
CA391005587
NM_001376.5:c.8275A>G