Canonical Allele Identifier: PA645388887
Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 258064
ClinVar Variation Id: 2161182
ClinVar RCV Id: RCV003078443

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001360.1:p.Met2935Ile
CA3202732
NM_001369.3:c.8805G>C
CA359214827
NM_001369.3:c.8805G>T
CA359214830
NM_001369.3:c.8805G>A