Canonical Allele Identifier: PA645460961
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 242283
ClinVar RCV Id: RCV000226068 RCV002262838 RCV002518392
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001963.1:p.Gly148Arg
CA9026064
NM_001972.4:c.442G>A
CA402918066
NM_001972.4:c.442G>C