ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645387754
Gene: DNAH5
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001360.1:p.Leu316Phe
NM_001369.3:c.946C>T