ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915978757
Gene: ELANE
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001796252
ClinVar Variation:
662107
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001963.1:p.Ala100Thr
CA402916069
NM_001972.4:c.298G>A