ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA182932
Gene: DNAH5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000155508
RCV000205957
RCV002498755
ClinVar Variation:
178748
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Lys2244Met
CA182931
NM_001369.3:c.6731A>T