ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915978883
Gene: ELANE
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001963.1:p.Thr175Met
CA9026084
NM_001972.4:c.524C>T