ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825468292
Gene: DYNC2H1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001906775
ClinVar Variation:
1405958
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073932.1:p.Phe116Ser
CA227398265
NM_001080463.2:c.347T>C