ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580233292
Gene: DNAH5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1767100
ClinVar RCV Id:
RCV002374069
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Val3161Phe
CA3202537
NM_001369.3:c.9481G>T