Allele Registry

Canonical Allele Identifier: PA239819

Gene: DNAH5 HGNC NCBI

ClinVar RCV:

RCV000174297

RCV000463597

ClinVar Variation:

194035

HGVS (amino-acid)	Matching Registered Transcripts
NP_001360.1:p.Arg529Trp	CA239818 NM_001369.3:c.1585C>T