ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645389434
Gene: DNAH5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
257996
ClinVar RCV Id:
RCV000253565
RCV000361695
RCV001094958
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.His4123Tyr
CA3201662
NM_001369.3:c.12367C>T