ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645389135
Gene: DNAH5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
228606
ClinVar RCV Id:
RCV000221456
RCV000226887
RCV000667684
RCV001589126
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Arg3813Trp
CA3201981
NM_001369.3:c.11437C>T