ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA242432
Gene: DNAH5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
195809
ClinVar RCV Id:
RCV000247012
RCV000724084
RCV001089342
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Ala1259Thr
CA242431
NM_001369.3:c.3775G>A