ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139701614
Gene: DNAH5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
964229
ClinVar RCV Id:
RCV001238413
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Arg631His
CA3204719
NM_001369.3:c.1892G>A