ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580234578
Gene: DYNC1H1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2441060
ClinVar RCV Id:
RCV003146889
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001367.2:p.Leu591Pro
CA391019303
NM_001376.5:c.1772T>C