ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA094581
Gene: DNAH5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000156495
RCV000556129
RCV000778752
RCV002510797
ClinVar Variation:
179699
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Arg2501Pro
CA184953
NM_001369.3:c.7502G>C