ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658677384
Gene: DNAH5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
454764
ClinVar RCV Id:
RCV000524800
RCV004526697
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Asp1139His
CA359233389
NM_001369.3:c.3415G>C