Canonical Allele Identifier: PA2828442177
Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 3083985
ClinVar RCV Id: RCV004376791

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001360.1:p.Ser913Arg
CA359196032
NM_001369.3:c.2739T>G
CA359196033
NM_001369.3:c.2739T>A
CA359196041
NM_001369.3:c.2737A>C