ClinGen Allele Registry
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Canonical Allele Identifier:
PA501222
Gene: DNAH5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Met2083Ile
CA501220
NM_001369.3:c.6249G>C
CA501221
NM_001369.3:c.6249G>A
CA359200557
NM_001369.3:c.6249G>T