ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658807408
Gene: DNAH5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
525238
ClinVar RCV Id:
RCV000629287
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Lys2581Glu
CA3203018
NM_001369.3:c.7741A>G