ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658813253
Gene: DNAH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
544654
ClinVar RCV Id:
RCV000655851
RCV003420154
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056327.4:p.Pro90Leu
CA2432582
NM_015512.5:c.269C>T