ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915986436
Gene: DNAH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
639993
ClinVar RCV Id:
RCV000792925
RCV003319422
RCV004027429
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056327.4:p.Ser1146Cys
CA2433567
NM_015512.5:c.3436A>T