Canonical Allele Identifier: PA2580219092
Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2451389
ClinVar RCV Id: RCV003182405

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001360.1:p.Met2776Ile
CA359219306
NM_001369.3:c.8328G>T
CA359219307
NM_001369.3:c.8328G>C
CA359219309
NM_001369.3:c.8328G>A