ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580174343
Gene: DNAH8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001193856.1:p.Ala550Thr
CA3788288
NM_001206927.2:c.1648G>A