ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658677471
Gene: DNAH5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
454794
ClinVar RCV Id:
RCV000534344
RCV001358439
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Val2184Ala
CA3203363
NM_001369.3:c.6551T>C