ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2742022414
Gene: DNAAF1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_848547.4:p.Pro722Leu
CA8203190
NM_178452.6:c.2165C>T