ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645389796
Gene: DNAH5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
238964
ClinVar RCV Id:
RCV000229430
RCV000670498
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Arg4592Gln
CA3201244
NM_001369.3:c.13775G>A