ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645387672
Gene: DNAH5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
238972
ClinVar RCV Id:
RCV000232369
RCV001095094
RCV003311722
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Leu123Phe
CA3205201
NM_001369.3:c.367C>T