ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139703159
Gene: DNAH5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
949808
ClinVar RCV Id:
RCV001221360
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Arg2943Cys
CA3202699
NM_001369.3:c.8827C>T