ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139701555
Gene: DNAH5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Glu550Lys
CA3204771
NM_001369.3:c.1648G>A