ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645387950
Gene: DNAH5
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000470933
RCV004526678
ClinVar Variation:
407235
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Val1022Ile
CA3204404
NM_001369.3:c.3064G>A