ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA355330
Gene: DNAH5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
219653
ClinVar RCV Id:
RCV000204405
RCV000478631
RCV001095124
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Thr4593Met
CA348633
NM_001369.3:c.13778C>T