Canonical Allele Identifier: PA101539
Gene: ELANE HGNC NCBI

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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_001963.1:p.Val98Leu
NM_001972.4:c.292G>C

NM_001972.4:c.292G>T

NM_001972.4:c.292G>T