Allele Registry

Canonical Allele Identifier: PA242432

Gene: DNAH5 HGNC NCBI

ClinVar Allele:

192970

ClinVar RCV:

RCV000247012

RCV000724084

RCV001089342

ClinVar Variation:

195809

HGVS (amino-acid)	Matching Registered Transcripts
NP_001360.1:p.Ala1259Thr	CA242431 NM_001369.3:c.3775G>A