Canonical Allele Identifier: PA1139701979
Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 933639
ClinVar RCV Id: RCV001201892

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001360.1:p.Met1214Ile
CA359232274
NM_001369.3:c.3642G>T
CA359232277
NM_001369.3:c.3642G>A
CA359232278
NM_001369.3:c.3642G>C