Allele Registry

Canonical Allele Identifier: PA645387754

Gene: DNAH5 HGNC NCBI

ClinVar Allele:

295568

ClinVar RCV:

RCV000371569

RCV001095059

ClinVar Variation:

351217

HGVS (amino-acid)	Matching Registered Transcripts
NP_001360.1:p.Leu316Phe	CA3205031 NM_001369.3:c.946C>T