Allele Registry

Canonical Allele Identifier: PA182924

Gene: DNAH5 HGNC NCBI

ClinVar RCV:

RCV000155503

RCV000265989

RCV001094957

RCV001706044

RCV003029625

ClinVar Variation:

178743

2113597

HGVS (amino-acid)	Matching Registered Transcripts
NP_001360.1:p.Ala4134Val	CA182923 NM_001369.3:c.12401C>T CA2580072002 NM_001369.3:c.12401_12402delinsTC