ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658677429
Gene: DNAH5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
454782
ClinVar RCV Id:
RCV000540141
RCV002481749
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Ala1740Val
CA359213999
NM_001369.3:c.5219C>T