ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645389129
Gene: DNAH5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
288543
ClinVar RCV Id:
RCV000312632
RCV003352823
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Thr3595Met
CA10606127
NM_001369.3:c.10784C>T