ClinGen Allele Registry
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Canonical Allele Identifier:
PA645389138
Gene: DNAH5
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001360.1:p.Leu3898Phe
NM_001369.3:c.11694G>C
NM_001369.3:c.11694G>T