Canonical Allele Identifier: PA501222
Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 228251

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001360.1:p.Met2083Ile
CA501220
NM_001369.3:c.6249G>C
CA501221
NM_001369.3:c.6249G>A
CA359200557
NM_001369.3:c.6249G>T