ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645388484
Gene: DNAH5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
258051
ClinVar RCV Id:
RCV000245497
RCV000487618
RCV001082173
RCV001152215
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Lys2056Ile
CA3203466
NM_001369.3:c.6167A>T