Canonical Allele Identifier: PA645388626
Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 351061
ClinVar RCV Id: RCV000279808 RCV002520319
ClinVar Variation Id: 834775
ClinVar RCV Id: RCV001035526
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001360.1:p.Phe2484Leu
CA3203090
NM_001369.3:c.7452C>A
CA359232290
NM_001369.3:c.7452C>G
CA359232303
NM_001369.3:c.7450T>C