ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741886963
Gene: ELANE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2926000
ClinVar RCV Id:
RCV003786286
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001963.1:p.Pro260Leu
CA9026163
NM_001972.4:c.779C>T