ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645460943
Gene: ELANE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
430341
ClinVar RCV Id:
RCV000493843
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001963.1:p.Arg81Trp
CA402915159
NM_001972.4:c.241C>T