ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645480716
Gene: DYNC2H1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000334410
RCV000726544
RCV001088693
RCV001332760
RCV002522036
RCV003967802
ClinVar Variation:
290754
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073932.1:p.Leu1683Phe
CA6253683
NM_001080463.2:c.5047C>T