ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645388141
Gene: DNAH5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
227325
ClinVar RCV Id:
RCV000222371
RCV000351920
RCV001095083
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Gly1504Arg
CA3203964
NM_001369.3:c.4510G>C
CA3203965
NM_001369.3:c.4510G>A