ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645387756
Gene: DNAH5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
407231
ClinVar RCV Id:
RCV000463187
RCV000625551
RCV003884546
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Ser321Leu
CA3205026
NM_001369.3:c.962C>T