ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA233905
Gene: DNAAF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
166997
ClinVar RCV Id:
RCV000153154
RCV000232041
RCV001094435
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_848547.4:p.Asn182Lys
CA233904
NM_178452.6:c.546C>G
CA8202520
NM_178452.6:c.546C>A