ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645436826
Gene: DNAH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
290747
ClinVar RCV Id:
RCV000363028
RCV001082492
RCV003930188
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056327.4:p.Lys451Glu
CA2432954
NM_015512.5:c.1351A>G