ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658677690
Gene: DNAH5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
454744
ClinVar RCV Id:
RCV000550344
RCV001154225
RCV003431067
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Thr4483Met
CA3201364
NM_001369.3:c.13448C>T