ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645387694
Gene: DNAH5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000477129
ClinVar Variation:
407246
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Ser169Leu
CA3205163
NM_001369.3:c.506C>T