ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499254858
Gene: DNAH5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1014729
ClinVar RCV Id:
RCV001313498
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.His3630Tyr
CA359190509
NM_001369.3:c.10888C>T