ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658807282
Gene: DNAH5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
525324
ClinVar RCV Id:
RCV000629378
RCV001563797
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Arg1494Trp
CA3203970
NM_001369.3:c.4480C>T