ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139703325
Gene: DNAH5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
933474
ClinVar RCV Id:
RCV001201694
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Ile3182Leu
CA113932883
NM_001369.3:c.9544A>C