ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658677391
Gene: DNAH5
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000527499
RCV003338643
RCV003431069
ClinVar Variation:
454769
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Arg1219His
CA3204204
NM_001369.3:c.3656G>A