Canonical Allele Identifier: PA658677658
Gene: DNAH5 HGNC NCBI
ClinVar RCV:
RCV000532779
ClinVar Variation:
454739
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001360.1:p.Val4237Phe
CA3201539
NM_001369.3:c.12709G>T