Canonical Allele Identifier: PA2580253438
Gene: ELANE HGNC NCBI
ClinVar Allele:
2101367
ClinVar RCV:
RCV002899567
ClinVar Variation:
2037000
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001963.1:p.Ala61Glu
CA9025948
NM_001972.4:c.182C>A