ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645388629
Gene: DNAH5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
407234
ClinVar RCV Id:
RCV000464819
RCV003615840
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Ala2492Val
CA3203085
NM_001369.3:c.7475C>T