ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139701379
Gene: DNAH5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Ala317Val
CA3205030
NM_001369.3:c.950C>T