Allele Registry

Canonical Allele Identifier: PA242430

Gene: DNAH5 HGNC NCBI

ClinVar RCV:

RCV000176468

RCV001086388

RCV001156529

RCV003927625

ClinVar Variation:

195808

HGVS (amino-acid)	Matching Registered Transcripts
NP_001360.1:p.Arg1245His	CA242429 NM_001369.3:c.3734G>A