ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827712308
Gene: DNAI2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
415318
ClinVar RCV Id:
RCV000466089
RCV001123108
RCV002285335
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340096.1:p.Leu488Phe
CA8745784
NM_001353167.2:c.1462C>T