ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829366878
Gene: ELANE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2928959
ClinVar RCV Id:
RCV003781685
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001963.1:p.Ter268Ser
CA402919591
NM_001972.4:c.803G>C