Canonical Allele Identifier: PA645388199
Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 238981
ClinVar RCV Id: RCV000227953 RCV000669971 RCV001327951 RCV003311723
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001360.1:p.Arg1805Cys
CA3203683
NM_001369.3:c.5413C>T
CA2742038360
NM_001369.3:c.[5413C>T;2577+5T>G]