ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573269895
Gene: DNAH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056327.4:p.Leu2071Arg
CA2434454
NM_015512.5:c.6212T>G