Allele Registry

Canonical Allele Identifier: PA645388629

Gene: DNAH5 HGNC NCBI

ClinVar RCV:

RCV000464819

RCV003615840

ClinVar Variation:

407234

HGVS (amino-acid)	Matching Registered Transcripts
NP_001360.1:p.Ala2492Val	CA3203085 NM_001369.3:c.7475C>T