ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658677680
Gene: DNAH5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
454741
ClinVar RCV Id:
RCV000532414
RCV000660460
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Phe4392Cys
CA3201427
NM_001369.3:c.13175T>G