ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA239194
Gene: DNAH11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
193625
ClinVar RCV Id:
RCV000173733
RCV000704090
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264044.1:p.Ile574Val
CA239193
NM_001277115.2:c.1720A>G