ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645388530
Gene: DNAH5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
407252
ClinVar RCV Id:
RCV000464982
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Leu2137Ile
CA3203415
NM_001369.3:c.6409C>A