ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645388959
Gene: DNAH5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
258067
ClinVar RCV Id:
RCV000243301
RCV000300115
RCV001094979
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Leu3082Ile
CA3202588
NM_001369.3:c.9244C>A