Canonical Allele Identifier: PA2580233399
Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2000825
ClinVar RCV Id: RCV002810668

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001360.1:p.Phe4201Leu
CA359207376
NM_001369.3:c.12603C>G
CA359207379
NM_001369.3:c.12603C>A
CA359207414
NM_001369.3:c.12601T>C