ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826622727
Gene: DNAI1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
197793
ClinVar RCV Id:
RCV000178924
RCV000233417
RCV001095357
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268357.1:p.Arg124Cys
CA246122
NM_001281428.1:c.370C>T