ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645460958
Gene: ELANE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
242291
ClinVar RCV Id:
RCV000232534
RCV002262841
RCV001857782
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001963.1:p.Arg143Cys
CA9026055
NM_001972.4:c.427C>T