ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA101403
Gene: ELANE
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001963.1:p.Ser46Phe
CA16043127
NM_001972.4:c.137C>T