ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645388168
Gene: DNAH5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
227327
ClinVar RCV Id:
RCV000220686
RCV000227501
RCV001152320
RCV001582726
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Glu1756Lys
CA3203750
NM_001369.3:c.5266G>A