ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915978959
Gene: ELANE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
668758
ClinVar RCV Id:
RCV000827714
RCV001796260
RCV002264025
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001963.1:p.Pro260Thr
CA9026162
NM_001972.4:c.778C>A