ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580233308
Gene: DNAH5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2007620
ClinVar RCV Id:
RCV002842446
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Ser3180Leu
CA2580072361
NM_001369.3:c.9538_9539delinsCT