ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA240290
Gene: DNAH5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194364
ClinVar RCV Id:
RCV000174718
RCV000820524
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Ser652Asn
CA240289
NM_001369.3:c.1955G>A