ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580233422
Gene: DNAH5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Ser4470Leu
CA3201374
NM_001369.3:c.13409C>T