Allele Registry

Canonical Allele Identifier: PA645388555

Gene: DNAH5 HGNC NCBI

ClinVar Allele:

394839

ClinVar RCV:

RCV000468270

ClinVar Variation:

407221

HGVS (amino-acid)	Matching Registered Transcripts
NP_001360.1:p.Glu2250Lys	CA3203289 NM_001369.3:c.6748G>A