ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645388173
Gene: DNAH5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
238980
ClinVar RCV Id:
RCV000234185
RCV002494641
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Ser1764Pro
CA3203705
NM_001369.3:c.5290T>C