ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658677516
Gene: DNAH5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
454812
ClinVar RCV Id:
RCV000528776
RCV001155771
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Arg2943His
CA3202698
NM_001369.3:c.8828G>A