ClinGen Allele Registry
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Canonical Allele Identifier:
PA344957
Gene: DNAH5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
76545
ClinVar RCV:
RCV000055850
RCV000629262
ClinVar Variation:
65637
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Arg577Thr
CA344956
NM_001369.3:c.1730G>C