ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580233237
Gene: DNAH5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1916942
ClinVar RCV Id:
RCV002625463
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Thr2730Met
CA359221020
NM_001369.3:c.8189C>T