ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658807472
Gene: DNAH5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
506279
ClinVar RCV Id:
RCV000613757
RCV000629269
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Val3399Ile
CA3202312
NM_001369.3:c.10195G>A